R81L (p.Arg81Leu) variant of KCNJ3 (P48549)
R81L (p.Arg81Leu) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R81L (p.Arg81Leu) variant details
- p.Arg81Leu
- gnomAD 2-154699017-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.93
- CADD 26.20
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available