E10D (p.Glu10Asp) variant of KCNJ11 (Q14654)
E10D (p.Glu10Asp) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- gnomAD 11-17388062-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.27
- CADD 16.60
- PolyPhen-2 0.04
- SIFT 0.44
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available
- Literature evidence available