M751K (p.Met751Lys) variant of ABCC6 (O95255)
M751K (p.Met751Lys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Optic atrophy; not provided; Arterial calcification, generalized, of infancy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M751K (p.Met751Lys) variant details
- p.Met751Lys
- rs72653786
- ClinGen CA278645448
- ClinVar RCV000499091
- ClinVar RCV001857040
- Pathogenic/Likely pathogenic
- Optic atrophy; not provided; Arterial calcification, generalized, of infancy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.81
- CADD 24.00
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Optic atrophy; not provided; Arterial calcification, generalized)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by… (PMID 17617515)
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)