A45S (p.Ala45Ser) variant of KCNJ11 (Q14654)
A45S (p.Ala45Ser) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- gnomAD 11-17387959-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.60
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available