S17C (p.Ser17Cys) variant of SLC12A3 (P55017)
S17C (p.Ser17Cys) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- gnomAD 16-56865284-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- MetaLR 0.50
- MetaSVM -0.25
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available