M131I (p.Met131Ile) variant of ABCG2 (Q9UNQ0)
M131I (p.Met131Ile) in ABCG2 (Q9UNQ0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
M131I (p.Met131Ile) variant details
- p.Met131Ile
- rs759726272
- ExAC rs759726272
- TOPMed rs759726272
- gnomAD rs759726272
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.40
- CADD 24.70
- PolyPhen-2 0.90
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available