D27H (p.Asp27His) variant of ABCG2 (Q9UNQ0)
D27H (p.Asp27His) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D27H (p.Asp27His) variant details
- p.Asp27His
- Ensembl rs987146842
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.25
- CADD 19.00
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available