G196V (p.Gly196Val) variant of FKRP (Q9H9S5)
G196V (p.Gly196Val) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G196V (p.Gly196Val) variant details
- p.Gly196Val
- rs2513989754
- ClinGen CA406495617
- ClinVar RCV003755395
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.73
- CADD 23.70
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available