S143L (p.Ser143Leu) variant of ABCG2 (Q9UNQ0)
S143L (p.Ser143Leu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S143L (p.Ser143Leu) variant details
- p.Ser143Leu
- Ensembl rs1724841605
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.67
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available