P34L (p.Pro34Leu) variant of SLC12A3 (P55017)
P34L (p.Pro34Leu) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- ExAC rs780222366
- TOPMed rs780222366
- gnomAD rs780222366
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available