P8R (p.Pro8Arg) variant of SLC12A2 (P55011)
P8R (p.Pro8Arg) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- gnomAD 5-128083977-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available