V53F (p.Val53Phe) variant of KCNQ3 (O43525)
V53F (p.Val53Phe) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V53F (p.Val53Phe) variant details
- p.Val53Phe
- gnomAD rs1475773270
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.42
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.10
- Population evidence available
- Structural context available