D2Y (p.Asp2Tyr) variant of SLCO1B1 (Q9Y6L6)
D2Y (p.Asp2Tyr) in SLCO1B1 (Q9Y6L6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- rs901600794
- TOPMed rs901600794
- gnomAD rs901600794
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.47
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available