P22L (p.Pro22Leu) variant of SLC12A2 (P55011)
P22L (p.Pro22Leu) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- TOPMed rs1759930298
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.22
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available