MYRF p.Pro738=
c.2214C>T · VCV4822971
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,507,690)
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 -0.1 | GERP -3.8, phastCons 0.49 |
| Overall | ||
| CADD | 4.343 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,507,690). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- MYRF
- Protein
- p.Pro738=
- Coding
- c.2214C>T
- MANE Select
- NM_001127392
- Type
- single nucleotide variant
- Location
- chr11:61779537 (GRCh38)
- Gene constraint
- LOEUF 0.215 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 61.76 · 2 PDB
- Residue 738
- the 'disordered' region; a UniProt-annotated variant site (in cugs; likely pathogenic)
Similar variants
- MYRF p.Gln150Ter Pathogenic/Likely pathogenic ★★ same type
- MYRF p.Trp939Ter Pathogenic ★★ same type
- MYRF p.Ala1001Ser Uncertain significance ★★ ⚠ same type
- MYRF p.Arg174Cys Uncertain significance ★★ ⚠ same type
- MYRF p.Arg733Gln Uncertain significance ★★ ⚠ same type
- MYRF p.Asn267Ser Uncertain significance ★★ ⚠ same type
- MYRF p.Glu421Lys Uncertain significance ★★ ⚠ same type
- MYRF p.Pro743Ser 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/myrf-p-pro738 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown