V87M (p.Val87Met) variant of ABCC6 (O95255)
V87M (p.Val87Met) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Arterial calcification, generalized, of i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V87M (p.Val87Met) variant details
- p.Val87Met
- rs1021031399
- ClinGen CA278671556
- ClinVar RCV001769436
- ClinVar RCV002489802
- Uncertain significance
- not provided; Inborn genetic diseases; Arterial calcification, generalized, of i
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.06
- CADD 20.40
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Arterial calcification, g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)