P112Q (p.Pro112Gln) variant of ABCG2 (Q9UNQ0)
P112Q (p.Pro112Gln) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P112Q (p.Pro112Gln) variant details
- p.Pro112Gln
- cosmic curated COSV99419
- 1000Genomes rs199473672
- ESP rs199473672
- ExAC rs199473672
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.42
- CADD 19.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available