P33S (p.Pro33Ser) variant of SLC12A3 (P55017)
P33S (p.Pro33Ser) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- TOPMed rs1332778814
- gnomAD rs1332778814
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 9.54
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available