L43V (p.Leu43Val) variant of KCNJ5 (P48544)
L43V (p.Leu43Val) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- gnomAD 11-128911400-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.22
- MetaLR 0.56
- MetaSVM -0.69
- CADD 17.50
- PolyPhen-2 0.03
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available