L15S (p.Leu15Ser) variant of SLC12A3 (P55017)
L15S (p.Leu15Ser) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L15S (p.Leu15Ser) variant details
- p.Leu15Ser
- ExAC rs747702542
- gnomAD rs747702542
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 17.90
- PolyPhen-2 0.15
- SIFT 0.43
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available