M24K (p.Met24Lys) variant of KCNJ2 (P63252)
M24K (p.Met24Lys) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M24K (p.Met24Lys) variant details
- p.Met24Lys
- gnomAD 17-70175110-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.05
- CADD 21.50
- PolyPhen-2 0.16
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available