E11A (p.Glu11Ala) variant of KCNA1 (Q09470)
E11A (p.Glu11Ala) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E11A (p.Glu11Ala) variant details
- p.Glu11Ala
- gnomAD rs1163240946
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.46
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available