K50Q (p.Lys50Gln) variant of KCNJ2 (P63252)
K50Q (p.Lys50Gln) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
K50Q (p.Lys50Gln) variant details
- p.Lys50Gln
- gnomAD 17-70175187-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available