G9V (p.Gly9Val) variant of KCNJ3 (P48549)
G9V (p.Gly9Val) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- gnomAD 2-154698801-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.46
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available