STAR p.Ala172=
c.516C>T · rs372984416 · VCV1145748
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0109%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.011 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -2.7, phastCons 0.001 |
| Overall | ||
| CADD | 11.13 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0109%
European (non-Finnish) · 129/1,180,030 alleles
Filtering AF
0.00936%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0088%
Overall
0.0088%
142/1,614,152 alleles · ultra-rare
exomes 129/1,461,830 · genomes 13/152,322 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0109% | 9,148 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,418 |
| East Asian | 0.00891% | 11,220 |
| African / African-American | 0.004% | 25,016 |
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
- STAR
- Protein
- p.Ala172=
- Coding
- c.516C>T
- MANE Select
- NM_000349
- dbSNP
- rs372984416
- Type
- single nucleotide variant
- Location
- chr8:38146097 (GRCh38)
- Gene constraint
- LOEUF 1.297 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.71 · 4 PDB
- Residue 172
- the start domain
Similar variants
- STAR c.178+1G>C Likely pathogenic ★★ same type
- STAR c.306+1G>A Likely pathogenic ★★ same type
- STAR c.307-1G>C Likely pathogenic ★★ same type
- STAR c.465+2T>C Pathogenic/Likely pathogenic ★★ same type
- STAR c.64+1G>A Pathogenic/Likely pathogenic ★★ same type
- STAR c.64+1G>T Pathogenic ★★ same type
- STAR p.Ala218Val Pathogenic ★★ same type
- STAR p.Arg182Cys Pathogenic ★★ 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/star-p-ala172 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown