P3L (p.Pro3Leu) variant of SLC12A2 (P55011)
P3L (p.Pro3Leu) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- TOPMed rs903367629
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.24
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00016)
- Structural context available