V51F (p.Val51Phe) variant of FKRP (Q9H9S5)
V51F (p.Val51Phe) 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 0.44 / 1. The record also includes population frequency data and structural context.
V51F (p.Val51Phe) variant details
- p.Val51Phe
- rs769377092
- ClinGen CA406494761
- ClinVar RCV001962936
- ExAC rs769377092
- Pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.64
- CADD 14.20
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available