P5L (p.Pro5Leu) variant of SLC12A3 (P55017)
P5L (p.Pro5Leu) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- TOPMed rs1463166721
- gnomAD rs1463166721
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 19.30
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available