R4Q (p.Arg4Gln) variant of SLC12A2 (P55011)
R4Q (p.Arg4Gln) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- TOPMed rs999011794
- gnomAD rs999011794
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.24
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available