L57P (p.Leu57Pro) variant of ABCC1 (P33527)
L57P (p.Leu57Pro) in ABCC1 (P33527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs2047610961
- TOPMed rs2047610961
- ClinGen CA394878379
- ClinVar RCV004424397
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.93
- MetaLR 0.41
- MetaSVM -0.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available