MPV17 p.Ala173=
c.519A>G · rs2148212207 · VCV1665671
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 carries the signal. | ||
| REVEL | 0.224 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -3.1 | GERP -5 |
| Overall | ||
| CADD | 4.782 | 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.Ala173=
- Coding
- c.519A>G
- MANE Select
- NM_002437
- dbSNP
- rs2148212207
- Type
- single nucleotide variant
- Location
- chr2:27309924 (GRCh38)
- Gene constraint
- LOEUF 1.368 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.23
- Residue 173
- a UniProt-annotated variant site (in mtdps6)
Similar variants
- 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
- MPV17 c.408+1G>A 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-ala173 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown