P42T (p.Pro42Thr) variant of SLC12A1 (Q13621)
P42T (p.Pro42Thr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- gnomAD 15-48207843-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.37
- MetaLR 0.47
- MetaSVM -0.04
- CADD 18.90
- PolyPhen-2 0.22
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available