C49Y (p.Cys49Tyr) variant of SLC22A8 (Organic anion transporter 3)
C49Y (p.Cys49Tyr) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- gnomAD rs2086656492
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.54
- MetaLR 0.51
- MetaSVM 0.27
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available