R5L (p.Arg5Leu) variant of KCNJ3 (P48549)
R5L (p.Arg5Leu) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 2-154698789-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.61
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available