Q41K (p.Gln41Lys) variant of KCNJ2 (P63252)
Q41K (p.Gln41Lys) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q41K (p.Gln41Lys) variant details
- p.Gln41Lys
- gnomAD 17-70175160-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.08
- CADD 19.40
- PolyPhen-2 0.07
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available