R8S (p.Arg8Ser) variant of KCNQ4 (P56696)
R8S (p.Arg8Ser) 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, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 1-40784115-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.39
- MetaLR 0.77
- MetaSVM 0.34
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 7.9e-05)
- Structural context available
- Literature evidence available