D77V (p.Asp77Val) variant of ABCB1 (ATP-dependent translocase ABCB1)
D77V (p.Asp77Val) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D77V (p.Asp77Val) variant details
- p.Asp77Val
- rs2546987987
- ClinGen CA368093427
- ClinVar RCV004412722
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available