AGT p.Ala177=
c.531T>C · VCV4764241
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.98 | GERP -2.8, phastCons 0.27 |
| Overall | ||
| CADD | 5.306 | PHRED · no single calibrated threshold — expert panels disagree |
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
- AGT
- Protein
- p.Ala177=
- Coding
- c.531T>C
- MANE Select
- NM_001384479
- Type
- single nucleotide variant
- Location
- chr1:230710293 (GRCh38)
- Gene constraint
- LOEUF 1.202 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 86.74 · 22 PDB
- Residue 177
- an α-helix
Similar variants
- AGT c.1060C>T Pathogenic/Likely pathogenic ★★ same type
- AGT c.829+1G>T Pathogenic/Likely pathogenic ★★ same type
- AGT c.1195G>A Uncertain significance ★★ ⚠ same type
- AGT c.856G>T Uncertain significance ★★ ⚠ same type
- AGT c.862C>T Uncertain significance ★★ ⚠ same type
- AGT c.-17G>C Uncertain significance ★★ ⚠ same type
- AGT p.Arg165Gln Uncertain significance ★★ same type
- AGT p.Arg366Leu Uncertain significance ★★ ⚠ 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/agt-p-ala177 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown