S49G (p.Ser49Gly) variant of SLC12A3 (P55017)
S49G (p.Ser49Gly) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S49G (p.Ser49Gly) variant details
- p.Ser49Gly
- gnomAD 16-56865380-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- MetaLR 0.80
- MetaSVM 0.50
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available