V329M (p.Val329Met) variant of FKRP (Q9H9S5)
V329M (p.Val329Met) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V329M (p.Val329Met) variant details
- p.Val329Met
- rs1179406638
- ClinGen CA406496413
- ClinVar RCV002710932
- TOPMed rs1179406638
- Pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.83
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available