MRPL44 p.Arg47=
c.141G>T · VCV4728073
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. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.9 | GERP 1.4 |
| Overall | ||
| CADD | 7.195 | 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
- MRPL44
- Protein
- p.Arg47=
- Coding
- c.141G>T
- MANE Select
- NM_022915
- Type
- single nucleotide variant
- Location
- chr2:223957613 (GRCh38)
- Gene constraint
- LOEUF 1.194 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.36 · 91 PDB
- Residue 47
- 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-arg47 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown