P81L (p.Pro81Leu) variant of ABCG2 (Q9UNQ0)
P81L (p.Pro81Leu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- ESP rs144647749
- ExAC rs144647749
- TOPMed rs144647749
- gnomAD rs144647749
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.89
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available