G11S (p.Gly11Ser) variant of SLC12A2 (P55011)
G11S (p.Gly11Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- TOPMed rs1759927162
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.19
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available