S17G (p.Ser17Gly) variant of SLC12A3 (P55017)
S17G (p.Ser17Gly) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- TOPMed rs1311050121
- gnomAD rs1311050121
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 22.10
- PolyPhen-2 0.18
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available