L1335P (p.Leu1335Pro) variant of ABCC6 (O95255)
L1335P (p.Leu1335Pro) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L1335P (p.Leu1335Pro) variant details
- p.Leu1335Pro
- rs63750414
- ClinGen CA278625382
- ClinVar RCV000499319
- UniProt VAR 067901
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.91
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Novel ABCC6 mutations in pseudoxanthoma elasticum. (PMID 15086542)
- Cited in: Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy… (PMID 19339160)