H38Y (p.His38Tyr) variant of KCNJ2 (P63252)
H38Y (p.His38Tyr) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H38Y (p.His38Tyr) variant details
- p.His38Tyr
- TOPMed rs2074384858
- gnomAD rs2074384858
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.34
- MetaLR 0.37
- MetaSVM -0.44
- CADD 23.30
- PolyPhen-2 0.86
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available