G17V (p.Gly17Val) variant of SLC12A2 (P55011)
G17V (p.Gly17Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- TOPMed rs1759928715
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.15
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available