R4W (p.Arg4Trp) variant of SLC12A2 (P55011)
R4W (p.Arg4Trp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- TOPMed rs1315325838
- gnomAD rs1315325838
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.22
- CADD 19.30
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available