R765Q (p.Arg765Gln) variant of ABCC6 (O95255)
R765Q (p.Arg765Gln) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive ABCC6-related disorders; Arterial calcification, generalized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R765Q (p.Arg765Gln) variant details
- p.Arg765Gln
- rs67561842
- ClinGen CA129120
- ClinVar RCV000023275
- ClinVar RCV000023276
- Pathogenic
- Autosomal recessive ABCC6-related disorders; Arterial calcification, generalized
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.91
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal recessive ABCC6-related disorders; Arterial calcificat)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)
- Cited in: Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. (PMID 12384774)