V24A (p.Val24Ala) variant of KCNQ4 (P56696)
V24A (p.Val24Ala) in KCNQ4 (P56696) 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.
V24A (p.Val24Ala) variant details
- p.Val24Ala
- gnomAD rs905612913
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.37
- MetaLR 0.88
- MetaSVM 0.74
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available