P33T (p.Pro33Thr) variant of SLC12A3 (P55017)
P33T (p.Pro33Thr) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- gnomAD 16-56865332-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- MetaLR 0.30
- MetaSVM -0.81
- CADD 9.92
- PolyPhen-2 0.03
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available