R45L (p.Arg45Leu) variant of KCNJ3 (P48549)
R45L (p.Arg45Leu) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R45L (p.Arg45Leu) variant details
- p.Arg45Leu
- cosmic curated COSV54533
- ExAC rs771489524
- gnomAD rs771489524
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.85
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available