MRPL44 p.Pro187=
c.561C>G · rs1059109 · VCV2074170
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
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 -0.89 | GERP 0.35 |
| Overall | ||
| CADD | 4.4 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/59,998 alleles
Filtering AF
0.000763%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000605%
Overall
0.000991%
16/1,614,036 alleles · very rare
exomes 14/1,461,872 · genomes 2/152,164 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 59,998 |
| European (non-Finnish) | 0.00127% | 78,670 |
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.Pro187=
- Coding
- c.561C>G
- MANE Select
- NM_022915
- dbSNP
- rs1059109
- Type
- single nucleotide variant
- Location
- chr2:223959915 (GRCh38)
- Gene constraint
- LOEUF 1.194 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.36 · 91 PDB
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-pro187 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown