RALA p.Ala177=
c.531G>A · rs147901344 · VCV1617102
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.209%, afr)
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 1.1 | GERP -0.42, phastCons 1 |
| Overall | ||
| CADD | 12.62 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.209%
African / African-American · 156/74,500 alleles
Filtering AF
0.183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.172%
Overall
0.0116%
187/1,606,396 alleles · rare
exomes 95/1,454,426 · genomes 92/151,970 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.209% | 478 |
| Middle Eastern | 0.0191% | 5,238 |
| Remaining individualsnot grpmax-eligible | 0.0129% | 7,768 |
| Admixed American | 0.0085% | 11,758 |
| East Asian | 0.00448% | 22,324 |
| Finnishnot grpmax-eligible | 0.00157% | 63,814 |
| European (non-Finnish) | 0.00119% | 84,086 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- RALA
- Protein
- p.Ala177=
- Coding
- c.531G>A
- MANE Select
- NM_005402
- dbSNP
- rs147901344
- Type
- single nucleotide variant
- Location
- chr7:39706155 (GRCh38)
- Gene constraint
- LOEUF 0.54 · pLI 0.95 (gnomAD)
- Structure
- AlphaFold pLDDT 89.54 · 17 PDB
- Residue 177
- a UniProt-annotated variant site (in hincons; uncertain significance); an α-helix
Similar variants
- RALA p.Ala177Val Uncertain significance ★ ⚠ same residue
- RALA p.Ala177Thr Benign ★ same residue
- RALA p.Thr156Ile Likely pathogenic ★★ same type
- RALA p.Val25Met Pathogenic/Likely pathogenic ★★ same type
- RALA p.Ala196Thr Uncertain significance ★★ ⚠ same type
- RALA p.Arg161Ter Uncertain significance ★★ same type
- RALA p.Arg176Ter Uncertain significance ★★ same type
- RALA p.Asp37Asn 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/rala-p-ala177 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown