ARL8A p.Ala137=
c.411A>G · rs61758714 · VCV791825
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.35%, 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 -8.3 | GERP -3.5 |
| Overall | ||
| CADD | 0.37 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.35%
African / African-American · 3,260/75,000 alleles
Filtering AF
4.22%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.17%
Overall
0.229%
3,692/1,614,086 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.35% | 23 |
| Remaining individualsnot grpmax-eligible | 0.322% | 311 |
| Admixed American | 0.253% | 395 |
| Middle Eastern | 0.214% | 466 |
| South Asian | 0.00878% | 11,384 |
| European (non-Finnish) | 0.00492% | 20,345 |
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
- ARL8A
- Protein
- p.Ala137=
- Coding
- c.411A>G
- MANE Select
- NM_138795
- dbSNP
- rs61758714
- Type
- single nucleotide variant
- Location
- chr1:202135488 (GRCh38)
- Gene constraint
- LOEUF 0.58 · pLI 0.84 (gnomAD)
- Structure
- AlphaFold pLDDT 91.87 · 3 PDB
Similar variants
- ARL8A p.Gln153= Benign ★★ same type
- ARL8A p.Ala3Thr Uncertain significance ★ ⚠ same type
- ARL8A p.Arg58Ser Uncertain significance ★ ⚠ same type
- ARL8A p.Asp100Gly Uncertain significance ★ ⚠ same type
- ARL8A p.Glu156Gln Uncertain significance ★ ⚠ same type
- ARL8A p.Ile2Met Uncertain significance ★ ⚠ same type
- ARL8A p.Val93Met 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/arl8a-p-ala137 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown