S48G (p.Ser48Gly) variant of SLC12A3 (P55017)
S48G (p.Ser48Gly) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- ExAC rs769776208
- gnomAD rs769776208
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available