E11D (p.Glu11Asp) variant of KCNA1 (Q09470)
E11D (p.Glu11Asp) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 12-4911411-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.34
- MetaLR 0.76
- MetaSVM -0.01
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available