MRPL12 p.Val95=
c.285C>T · rs74006103 · VCV387993
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0324%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -13 | GERP -3.9 |
| Overall | ||
| CADD | 0.273 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0324%
European (non-Finnish) · 382/1,179,982 alleles
Filtering AF
0.0297%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0286%
Overall
0.0263%
425/1,613,894 alleles · ultra-rare
exomes 374/1,461,598 · genomes 51/152,296 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0324% | 3,089 |
| Finnishnot grpmax-eligible | 0.0188% | 5,319 |
| African / African-American | 0.0187% | 5,360 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,929 |
| Admixed American | 0.01% | 10,004 |
| East Asian | 0.00446% | 22,444 |
| South Asian | 0.0022% | 45,530 |
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
- MRPL12
- Protein
- p.Val95=
- Coding
- c.285C>T
- MANE Select
- NM_002949
- dbSNP
- rs74006103
- Type
- single nucleotide variant
- Location
- chr17:81704656 (GRCh38)
- Gene constraint
- LOEUF 1.048 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.55 · 46 PDB
Similar variants
- MRPL12 p.Ala124Pro Uncertain significance ★★ ⚠ same type
- MRPL12 p.Ala124Val Uncertain significance ★★ ⚠ same type
- MRPL12 p.Ala33Thr Uncertain significance ★★ ⚠ same type
- MRPL12 p.Arg127Trp Uncertain significance ★★ ⚠ same type
- MRPL12 p.Arg133His Uncertain significance ★★ ⚠ same type
- MRPL12 p.Ile149Val Uncertain significance ★★ ⚠ same type
- MRPL12 p.Leu76Pro Uncertain significance ★★ ⚠ same type
- MRPL12 p.Pro12Arg Uncertain significance ★★ ⚠ 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/mrpl12-p-val95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown