S16T (p.Ser16Thr) variant of SLC12A1 (Q13621)
S16T (p.Ser16Thr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S16T (p.Ser16Thr) variant details
- p.Ser16Thr
- gnomAD 15-48207766-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.15
- MetaLR 0.39
- MetaSVM -0.70
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available