E3K (p.Glu3Lys) variant of KCNQ4 (P56696)
E3K (p.Glu3Lys) 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.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- TOPMed rs1647180074
- gnomAD rs1647180074
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.31
- MetaLR 0.78
- MetaSVM 0.41
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available