W26L (p.Trp26Leu) variant of FKRP (Q9H9S5)
W26L (p.Trp26Leu) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
W26L (p.Trp26Leu) variant details
- p.Trp26Leu
- rs752731569
- ClinGen CA9532105
- ClinVar RCV001313796
- ExAC rs752731569
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.46
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available