STAR p.Val265=
c.795G>A · rs2130611158 · VCV1139385
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,609,822)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.035 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.25 | acceptor loss · deltas |
| Pangolin | Δ0.28 | loss · gain 0.02 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 0.45 | GERP 1.1, phastCons 0.99 |
| Overall | ||
| CADD | 5.322 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,609,822). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- STAR
- Protein
- p.Val265=
- Coding
- c.795G>A
- MANE Select
- NM_000349
- dbSNP
- rs2130611158
- Type
- single nucleotide variant
- Location
- chr8:38144336 (GRCh38)
- Gene constraint
- LOEUF 1.297 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.71 · 4 PDB
- Residue 265
- the start domain; an α-helix
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-val265 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown