P31S (p.Pro31Ser) variant of SLC12A3 (P55017)
P31S (p.Pro31Ser) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- 1000Genomes rs570454775
- ExAC rs570454775
- gnomAD rs570454775
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 3.16
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available