A78T (p.Ala78Thr) variant of ABCC6 (O95255)
A78T (p.Ala78Thr) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- rs2856597
- ClinGen CA278671597
- cosmic curated COSV10940
- ClinVar RCV000499196
- Uncertain significance
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.0645
- REVEL 0.03
- CADD 8.34
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)
- Cited in: Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy… (PMID 19339160)