S27G (p.Ser27Gly) variant of SLC12A3 (P55017)
S27G (p.Ser27Gly) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- cosmic curated COSV10499
- Ensembl rs1964324934
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available