MYRF p.Ser43=
c.129C>T · rs372575659 · VCV3057910
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0789%, nfe)
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 -20 | GERP -3.4 |
| Overall | ||
| CADD | 0.255 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0789%
European (non-Finnish) · 931/1,179,484 alleles
Filtering AF
0.0747%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.073%
Overall
0.0615%
991/1,611,794 alleles · ultra-rare
exomes 955/1,459,558 · genomes 36/152,236 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0789% | 1,267 |
| Middle Eastern | 0.0353% | 2,830 |
| Remaining individualsnot grpmax-eligible | 0.0337% | 2,971 |
| Admixed American | 0.03% | 3,330 |
| African / African-American | 0.02% | 4,998 |
| Finnishnot grpmax-eligible | 0.00475% | 21,061 |
| South Asian | 0.0011% | 90,870 |
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
- MYRF
- Protein
- p.Ser43=
- Coding
- c.129C>T
- MANE Select
- NM_001127392
- dbSNP
- rs372575659
- Type
- single nucleotide variant
- Location
- chr11:61765707 (GRCh38)
- Gene constraint
- LOEUF 0.215 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 61.76 · 2 PDB
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-ser43 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown