K49R (p.Lys49Arg) variant of KCNJ2 (P63252)
K49R (p.Lys49Arg) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K49R (p.Lys49Arg) variant details
- p.Lys49Arg
- gnomAD 17-70175185-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.42
- MetaLR 0.71
- MetaSVM 0.22
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available