V51M (p.Val51Met) variant of ABCC2 (Q92887)
V51M (p.Val51Met) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V51M (p.Val51Met) variant details
- p.Val51Met
- 1000Genomes rs147471996
- ESP rs147471996
- ExAC rs147471996
- TOPMed rs147471996
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 14.00
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available