S28G (p.Ser28Gly) variant of SLC12A3 (P55017)
S28G (p.Ser28Gly) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- TOPMed rs1470397391
- gnomAD rs1470397391
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 7.68
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available