G14R (p.Gly14Arg) variant of SLC12A2 (P55011)
G14R (p.Gly14Arg) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- TOPMed rs1759927937
- gnomAD rs1759927937
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.25
- CADD 7.38
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available