MRPL44 p.Pro208=
c.624T>C · rs35331337 · VCV138245
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Common
common (popmax 19%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.1 | GERP -3.6 |
| Overall | ||
| CADD | 3.345 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
19%
African / African-American · 14,263/74,970 alleles
Filtering AF
18.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 18.7%
Overall
1.03%
16,606/1,613,218 alleles · common
exomes 8,388/1,460,948 · genomes 8,218/152,270 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 19% | 5 |
| Remaining individualsnot grpmax-eligible | 1.52% | 66 |
| Middle Eastern | 1.47% | 68 |
| Admixed American | 1.31% | 76 |
| South Asian | 0.173% | 580 |
| East Asian | 0.127% | 787 |
| European (non-Finnish) | 0.0257% | 3,893 |
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.Pro208=
- Coding
- c.624T>C
- MANE Select
- NM_022915
- dbSNP
- rs35331337
- Type
- single nucleotide variant
- Location
- chr2:223959978 (GRCh38)
- Gene constraint
- LOEUF 1.194 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.36 · 91 PDB
- Residue 208
- 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-pro208 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown