D128V (p.Asp128Val) variant of ABCG2 (Q9UNQ0)
D128V (p.Asp128Val) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
D128V (p.Asp128Val) variant details
- p.Asp128Val
- 1000Genomes rs149106245
- ExAC rs149106245
- TOPMed rs149106245
- gnomAD rs149106245
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.79
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.0098)
- Structural context available