S100G (p.Ser100Gly) variant of ABCG2 (Q9UNQ0)
S100G (p.Ser100Gly) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S100G (p.Ser100Gly) variant details
- p.Ser100Gly
- 1000Genomes rs551022147
- ExAC rs551022147
- gnomAD rs551022147
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.24
- CADD 9.74
- PolyPhen-2 0.07
- SIFT 0.36
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available