S16G (p.Ser16Gly) variant of SLC12A1 (Q13621)
S16G (p.Ser16Gly) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- gnomAD 15-48207765-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.18
- MetaLR 0.49
- MetaSVM -0.45
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available