D127G (p.Asp127Gly) variant of ABCG2 (Q9UNQ0)
D127G (p.Asp127Gly) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
D127G (p.Asp127Gly) variant details
- p.Asp127Gly
- Ensembl rs1724849620
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.94
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available