R64W (p.Arg64Trp) variant of ABCC6 (O95255)
R64W (p.Arg64Trp) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- rs557180313
- NCI-TCGA Cosmic COSV5274
- cosmic curated COSV52743
- UniProt VAR 013365
- Uncertain significance
- Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.34
- CADD 29.00
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Pseudoxanthoma elasticum, forme fruste; Arterial calcification,)
- EBI: Variant of uncertain significance (in dbSNP:rs557180313)
- UniProt: Uncertain significance (in dbSNP:rs557180313)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID 10493829)
- Cited in: Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of… (PMID 11058917)