S39R (p.Ser39Arg) variant of SLC12A3 (P55017)
S39R (p.Ser39Arg) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S39R (p.Ser39Arg) variant details
- p.Ser39Arg
- ExAC rs749664877
- TOPMed rs749664877
- gnomAD rs749664877
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available