Q57K (p.Gln57Lys) variant of KCNJ11 (Q14654)
Q57K (p.Gln57Lys) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Q57K (p.Gln57Lys) variant details
- p.Gln57Lys
- gnomAD rs1953590851
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.71
- CADD 24.70
- PolyPhen-2 0.81
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available