Q57H (p.Gln57His) variant of KCNJ11 (Q14654)
Q57H (p.Gln57His) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q57H (p.Gln57His) variant details
- p.Gln57His
- gnomAD 11-17387921-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.74
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available