V20A (p.Val20Ala) variant of FKRP (Q9H9S5)
V20A (p.Val20Ala) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- rs750241299
- ClinGen CA9532102
- ClinVar RCV001246809
- ClinVar RCV003145488
- Uncertain significance
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.43
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available