T40S (p.Thr40Ser) variant of SLC12A1 (Q13621)
T40S (p.Thr40Ser) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T40S (p.Thr40Ser) variant details
- p.Thr40Ser
- gnomAD 15-48207838-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.15
- MetaLR 0.38
- MetaSVM -0.62
- CADD 2.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available