MRPL44 p.Ala296=
c.888T>G · rs185877673 · VCV516495
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.267%, amr)
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 -2.2 | GERP 2 |
| Overall | ||
| CADD | 5.666 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.267%
Admixed American · 160/60,022 alleles
Filtering AF
0.233%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.22%
Overall
0.00997%
161/1,614,220 alleles · rare
exomes 148/1,461,880 · genomes 13/152,340 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.267% | 375 |
| European (non-Finnish) | 8.47e-05% | 1,180,032 |
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
- MRPL44
- Protein
- p.Ala296=
- Coding
- c.888T>G
- MANE Select
- NM_022915
- dbSNP
- rs185877673
- Type
- single nucleotide variant
- Location
- chr2:223966923 (GRCh38)
- Gene constraint
- LOEUF 1.194 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.36 · 91 PDB
- Residue 296
- the drbm domain; an α-helix
Similar variants
- MRPL44 p.Leu156Arg Pathogenic/Likely pathogenic ★★ same type
- MRPL44 p.Ala37Ser Uncertain significance ★★ ⚠ same type
- MRPL44 p.Arg105Cys Uncertain significance ★★ ⚠ same type
- MRPL44 p.Arg312Trp Uncertain significance ★★ ⚠ same type
- MRPL44 p.Asn249Ser Uncertain significance ★★ ⚠ same type
- MRPL44 p.Asn315Tyr Uncertain significance ★★ ⚠ same type
- MRPL44 p.His13Arg Uncertain significance ★★ ⚠ same type
- MRPL44 p.Ile153Leu 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/mrpl44-p-ala296 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown