P22H (p.Pro22His) variant of KCNJ5 (P48544)
P22H (p.Pro22His) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P22H (p.Pro22His) variant details
- p.Pro22His
- TOPMed rs1944494149
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.24
- MetaLR 0.64
- MetaSVM -0.51
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available