Is AGTR1 p.Asp236Val (c.707A>T) pathogenic?

AGTR1 p.Asp236Val (c.707A>T) is classified Uncertain significance in AGTR1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-08-17). AlphaMissense: ambiguous (0.4528); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with AGTR1 p.Asp236Val (c.707A>T)?

AGTR1 p.Asp236Val (c.707A>T) is associated with Inborn genetic diseases (ClinVar).

How common is AGTR1 p.Asp236Val (c.707A>T) in the general population?

AGTR1 p.Asp236Val (c.707A>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about AGTR1 p.Asp236Val (c.707A>T)?

AlphaMissense predicts ambiguous (score 0.4528) — an in-silico prediction, not a clinical call.

AGTR1 p.Asp236Val

c.707A>T · rs762800866 · VCV2307617

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4528 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.4528	ambiguous
REVEL	0.592	indeterminate
SaProt	LLR -6.56	tolerated
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 1.6, phastCons 1
Regional constraint	o/e 0.86	unconstrained · MANE · 1,076 bp · p 0.0046 · regional, not allelic
Overall
CADD	25.6	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: AGTR1
Protein: p.Asp236Val
Coding: c.707A>T
MANE Select: NM_000685
dbSNP: rs762800866
Type: single nucleotide variant
Location: chr3:148741742 (GRCh38)
Gene constraint: LOEUF 1.113 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.55 · 14 PDB
Residue 236: a disulfide bond

Full AGTR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AGTR1 p.Asp236His Uncertain significance ★ same residue
AGTR1 p.Asn46Lys Uncertain significance ★★ ⚠ same condition
AGTR1 p.Leu70Ile Uncertain significance ★★ ⚠ same condition
AGTR1 p.Phe356Val Uncertain significance ★★ ⚠ same condition
AGTR1 p.Thr260Ile Uncertain significance ★★ ⚠ same condition
AGTR1 p.Val52Gly Uncertain significance ★★ ⚠ same condition
AGTR1 p.Asn231Asp Uncertain significance ★ ⚠ same condition
AGTR1 p.Asp237Glu Uncertain significance ★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/agtr1-p-asp236val (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown