Q57L (p.Gln57Leu) variant of KCNJ11 (Q14654)
Q57L (p.Gln57Leu) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q57L (p.Gln57Leu) variant details
- p.Gln57Leu
- gnomAD 11-17387922-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.61
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available