C116R (p.Cys116Arg) variant of SLC22A8 (Organic anion transporter 3)
C116R (p.Cys116Arg) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C116R (p.Cys116Arg) variant details
- p.Cys116Arg
- ExAC rs751429633
- gnomAD rs751429633
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.71
- MetaLR 0.78
- MetaSVM 0.57
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available