A22T (p.Ala22Thr) variant of ABCG2 (Q9UNQ0)
A22T (p.Ala22Thr) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- cosmic curated COSV52945
- 1000Genomes rs191389789
- ESP rs191389789
- ExAC rs191389789
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.30
- CADD 0.12
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available