S73G (p.Ser73Gly) variant of SLC12A3 (P55017)
S73G (p.Ser73Gly) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S73G (p.Ser73Gly) variant details
- p.Ser73Gly
- TOPMed rs1267907188
- gnomAD rs1267907188
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 24.30
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available