S27N (p.Ser27Asn) variant of SLC12A3 (P55017)
S27N (p.Ser27Asn) 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.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- TOPMed rs1448334300
- gnomAD rs1448334300
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 15.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available