S28N (p.Ser28Asn) variant of SLC12A3 (P55017)
S28N (p.Ser28Asn) 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 and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- ExAC rs764475158
- TOPMed rs764475158
- gnomAD rs764475158
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 16.00
- PolyPhen-2 0.03
- SIFT 0.64
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available