FKRP p.Phe125=
c.375T>C · rs1599934927 · VCV681982
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 1,509,916)
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 -3.7 | GERP -2.6 |
| Overall | ||
| CADD | 1.37 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,509,916). 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
- FKRP
- Protein
- p.Phe125=
- Coding
- c.375T>C
- MANE Select
- NM_024301
- dbSNP
- rs1599934927
- Type
- single nucleotide variant
- Location
- chr19:46755825 (GRCh38)
- Gene constraint
- LOEUF 1.543 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.08 · 8 PDB
- Residue 125
- a β-strand
Similar variants
- FKRP p.Phe125Ser Uncertain significance ★★ ⚠ same residue
- FKRP p.Ala157Pro Pathogenic/Likely pathogenic ★★ same type
- FKRP p.Ala321Glu Pathogenic/Likely pathogenic ★★ ⚠ same type
- FKRP p.Ala455Asp Pathogenic ★★ same type
- FKRP p.Arg176Ter Pathogenic/Likely pathogenic ★★ same type
- FKRP p.Arg275Cys Pathogenic/Likely pathogenic ★★ same type
- FKRP p.Arg54Gly Likely pathogenic ★★ ⚠ same type
- FKRP p.Asn463Asp Pathogenic/Likely pathogenic ★★ 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/fkrp-p-phe125 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown