A90T (p.Ala90Thr) variant of ABCC6 (O95255)
A90T (p.Ala90Thr) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A90T (p.Ala90Thr) variant details
- p.Ala90Thr
- rs957828732
- ClinGen CA278671548
- ClinVar RCV000499024
- UniProt VAR 072807
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.02
- CADD 9.82
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. (PMID 25615550)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)