K31M (p.Lys31Met) variant of ABCC1 (P33527)
K31M (p.Lys31Met) 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 0.40 / 1. The record also includes population frequency data and structural context.
K31M (p.Lys31Met) variant details
- p.Lys31Met
- rs2508882761
- ClinGen CA394877825
- ClinVar RCV004424552
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.30
- CADD 25.90
- PolyPhen-2 0.65
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available