E11V (p.Glu11Val) variant of KCNA1 (Q09470)
E11V (p.Glu11Val) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E11V (p.Glu11Val) variant details
- p.Glu11Val
- gnomAD rs1163240946
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.73
- CADD 26.50
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available