A30G (p.Ala30Gly) variant of SLC12A2 (P55011)
A30G (p.Ala30Gly) 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.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- ExAC rs761637816
- TOPMed rs761637816
- gnomAD rs761637816
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available