R20H (p.Arg20His) variant of KCNQ4 (P56696)
R20H (p.Arg20His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- gnomAD 1-40784152-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.28
- MetaLR 0.81
- MetaSVM 0.47
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available