E31G (p.Glu31Gly) variant of SLC12A1 (Q13621)
E31G (p.Glu31Gly) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- ExAC rs111352042
- gnomAD rs111352042
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -1.02
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available