R46P (p.Arg46Pro) variant of KCNJ2 (P63252)
R46P (p.Arg46Pro) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R46P (p.Arg46Pro) variant details
- p.Arg46Pro
- gnomAD 17-70175176-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.69
- MetaLR 0.41
- MetaSVM -0.35
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available