Q57E (p.Gln57Glu) variant of KCNJ11 (Q14654)
Q57E (p.Gln57Glu) 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, published literature, and structural context.
Q57E (p.Gln57Glu) variant details
- p.Gln57Glu
- gnomAD 11-17387923-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.71
- CADD 24.30
- PolyPhen-2 0.81
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available