R116P (p.Arg116Pro) variant of SLC22A2 (O15244)
R116P (p.Arg116Pro) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R116P (p.Arg116Pro) variant details
- p.Arg116Pro
- ExAC rs766277243
- gnomAD rs766277243
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.23
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available