P112L (p.Pro112Leu) variant of ABCG2 (Q9UNQ0)
P112L (p.Pro112Leu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P112L (p.Pro112Leu) variant details
- p.Pro112Leu
- cosmic curated COSV52942
- 1000Genomes rs199473672
- ESP rs199473672
- ExAC rs199473672
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.30
- CADD 16.30
- PolyPhen-2 0.18
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available