P76R (p.Pro76Arg) variant of SLC22A2 (O15244)
P76R (p.Pro76Arg) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P76R (p.Pro76Arg) variant details
- p.Pro76Arg
- ExAC rs776485194
- TOPMed rs776485194
- gnomAD rs776485194
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.80
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available