S28I (p.Ser28Ile) variant of SLC12A3 (P55017)
S28I (p.Ser28Ile) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- ExAC rs764475158
- TOPMed rs764475158
- gnomAD rs764475158
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available