N150K (p.Asn150Lys) variant of ABCC6 (O95255)
N150K (p.Asn150Lys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar 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 0.07 / 1. The record also includes population frequency data and structural context.
N150K (p.Asn150Lys) variant details
- p.Asn150Lys
- 1000Genomes rs530448710
- ExAC rs530448710
- TOPMed rs530448710
- gnomAD rs530448710
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0749
- REVEL 0.04
- CADD 9.84
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available