T1301I (p.Thr1301Ile) variant of ABCC6 (O95255)
T1301I (p.Thr1301Ile) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T1301I (p.Thr1301Ile) variant details
- p.Thr1301Ile
- rs63750494
- ClinGen CA278625576
- ClinVar RCV000499236
- ClinVar RCV001857047
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.96
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive inherited pseudoxanthoma elast)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)