T48S (p.Thr48Ser) variant of SLC12A1 (Q13621)
T48S (p.Thr48Ser) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T48S (p.Thr48Ser) variant details
- p.Thr48Ser
- ExAC rs777199828
- gnomAD rs777199828
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.38
- MetaLR 0.52
- MetaSVM -0.05
- CADD 18.10
- PolyPhen-2 0.11
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available