R81H (p.Arg81His) variant of KCNJ3 (P48549)
R81H (p.Arg81His) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R81H (p.Arg81His) variant details
- p.Arg81His
- gnomAD 2-154699017-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.85
- CADD 26.00
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available