D2N (p.Asp2Asn) variant of SLCO1B1 (Q9Y6L6)
D2N (p.Asp2Asn) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- TOPMed rs901600794
- gnomAD rs901600794
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.09
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available