P22R (p.Pro22Arg) variant of SLC12A2 (P55011)
P22R (p.Pro22Arg) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- gnomAD 5-128084019-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.19
- CADD 15.90
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available