M19V (p.Met19Val) variant of KCNJ2 (P63252)
M19V (p.Met19Val) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M19V (p.Met19Val) variant details
- p.Met19Val
- gnomAD 17-70175094-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.08
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available