V160F (p.Val160Phe) variant of FKRP (Q9H9S5)
V160F (p.Val160Phe) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V160F (p.Val160Phe) variant details
- p.Val160Phe
- rs1314476567
- ClinGen CA406495405
- ClinVar RCV001247136
- TOPMed rs1314476567
- Pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.67
- CADD 10.80
- PolyPhen-2 0.17
- SIFT 0.09
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Population evidence available
- Structural context available
- Cited in: Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. (PMID 14647208)
- Cited in: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic… (PMID 11741828)