MPV17 p.Val38=
c.114G>A · rs1679520003 · VCV1611378
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.357 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.25 | acceptor loss, 8 bp away · masked 0 · deltas |
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 2.8, phastCons 1 |
| Overall | ||
| CADD | 12.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- MPV17
- Protein
- p.Val38=
- Coding
- c.114G>A
- MANE Select
- NM_002437
- dbSNP
- rs1679520003
- Type
- single nucleotide variant
- Location
- chr2:27313066 (GRCh38)
- Gene constraint
- LOEUF 1.368 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.23
Similar variants
- MPV17 p.Val38fs Pathogenic ★ same residue
- MPV17 c.186+2T>C Pathogenic/Likely pathogenic ★★ same type
- MPV17 c.279+1G>T Pathogenic ★★ same type
- MPV17 c.375+1G>A Likely pathogenic ★★ same type
- MPV17 c.375+1G>T Likely pathogenic ★★ same type
- MPV17 c.375+2T>C Likely pathogenic ★★ same type
- MPV17 c.376-1G>A Pathogenic/Likely pathogenic ★★ same type
- MPV17 c.376-2A>C Pathogenic/Likely 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/mpv17-p-val38 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown