G13V (p.Gly13Val) variant of SLC22A2 (O15244)
G13V (p.Gly13Val) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- ExAC rs760038413
- TOPMed rs760038413
- gnomAD rs760038413
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.75
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available