L71Q (p.Leu71Gln) variant of SLC22A2 (O15244)
L71Q (p.Leu71Gln) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L71Q (p.Leu71Gln) variant details
- p.Leu71Gln
- ExAC rs762784781
- gnomAD rs762784781
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.61
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available