STAR p.Glu34=
c.102G>A · rs150157693 · VCV1091118
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00801%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.086 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 10.24 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00801%
African / African-American · 6/74,952 alleles
Filtering AF
0.00347%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00228%
Overall
0.000372%
6/1,613,916 alleles · very rare
exomes 2/1,461,660 · genomes 4/152,256 · joint denominator
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.Glu34=
- Coding
- c.102G>A
- MANE Select
- NM_000349
- dbSNP
- rs150157693
- Type
- single nucleotide variant
- Location
- chr8:38148717 (GRCh38)
- Gene constraint
- LOEUF 1.297 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.71 · 4 PDB
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-glu34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown