L7P (p.Leu7Pro) variant of SLC22A6 (Q4U2R8)
L7P (p.Leu7Pro) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs1415632329
- UniProt VAR 039682
- TOPMed rs1415632329
- gnomAD rs1415632329
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.58
- MetaLR 0.53
- MetaSVM 0.26
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Cited in: Analyses of coding region polymorphisms in apical and basolateral human organic anion transporter (OAT) genes [OAT1… (PMID 16164626)