G19V (p.Gly19Val) variant of SLC12A2 (P55011)
G19V (p.Gly19Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 5-128084010-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.16
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available