Is ADRB1 p.Asp24Ala (c.71A>C) pathogenic?

ADRB1 p.Asp24Ala (c.71A>C) is classified Uncertain significance in ADRB1 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-12). AlphaMissense: likely benign (0.06); Absent from gnomAD v4.1.

How common is ADRB1 p.Asp24Ala (c.71A>C) in the general population?

ADRB1 p.Asp24Ala (c.71A>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ADRB1 p.Asp24Ala (c.71A>C)?

AlphaMissense predicts likely benign (score 0.06) — an in-silico prediction, not a clinical call.

ADRB1 p.Asp24Ala

c.71A>C · rs2119528070 · VCV2376162

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.06 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.06	likely benign
REVEL	0.142	moderately benign-leaning
SaProt	LLR -3.50	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 10	GERP -3.1, phastCons 1
Regional constraint	o/e 0.78	unconstrained · MANE · 771 bp · p 1.8e-05 · regional, not allelic
Overall
CADD	20.9	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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: ADRB1
Protein: p.Asp24Ala
Coding: c.71A>C
MANE Select: NM_000684
dbSNP: rs2119528070
Type: single nucleotide variant
Location: chr10:114044203 (GRCh38)
Gene constraint: LOEUF 1.939 · pLI 0.11 (gnomAD)
Structure: AlphaFold pLDDT 77.01 · 7 PDB

Full ADRB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADRB1 p.Asp24His Uncertain significance ★ ⚠ same residue
ADRB1 p.Asn76= Benign/Likely benign ★★ same type
ADRB1 p.Asp382Gly Benign ★★ same type
ADRB1 p.Cys180= Benign ★★ same type
ADRB1 p.Leu105= Benign ★★ same type
ADRB1 p.Ser49Gly Likely benign ★★ same type
ADRB1 p.Val5Ala Benign ★★ same type
ADRB1 p.Val69= Benign ★★ same type

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/adrb1-p-asp24ala (accessed [today's date]).

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