M1I (p.Met1Ile) variant of ABCC2 (Q92887)
M1I (p.Met1Ile) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ABCC2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1309534430
- ClinGen CA378100092
- ClinVar RCV003894756
- Uncertain significance
- ABCC2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- MetaLR 0.52
- MetaSVM -0.18
- PolyPhen-2 0.08
- SIFT 0.04
- MutPred 0.96
- ClinVar: Uncertain significance (ABCC2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available