V363A (p.Val363Ala) variant of FKRP (Q9H9S5)
V363A (p.Val363Ala) 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 0.70 / 1. The record also includes population frequency data and structural context.
V363A (p.Val363Ala) variant details
- p.Val363Ala
- rs2054930160
- ClinGen CA406496623
- ClinVar RCV001340776
- Ensembl rs2054930160
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.75
- CADD 25.70
- PolyPhen-2 0.46
- SIFT 0.05
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available