R20C (p.Arg20Cys) variant of KCNQ4 (P56696)
R20C (p.Arg20Cys) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- TOPMed rs1268949306
- gnomAD rs1268949306
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.38
- MetaLR 0.80
- MetaSVM 0.42
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available