P76L (p.Pro76Leu) variant of SLC22A2 (O15244)
P76L (p.Pro76Leu) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- ExAC rs776485194
- TOPMed rs776485194
- gnomAD rs776485194
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.68
- CADD 23.40
- PolyPhen-2 0.78
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available