V33I (p.Val33Ile) variant of KCNJ5 (P48544)
V33I (p.Val33Ile) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V33I (p.Val33Ile) variant details
- p.Val33Ile
- gnomAD 11-128911370-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.13
- MetaLR 0.43
- MetaSVM -0.72
- CADD 1.10
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available