R62W (p.Arg62Trp) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
R62W (p.Arg62Trp) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R62W (p.Arg62Trp) variant details
- p.Arg62Trp
- rs147946593
- ClinGen CA10508003
- NCI-TCGA Cosmic COSV6302
- cosmic curated COSV63023
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.49
- CADD 25.00
- PolyPhen-2 0.85
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)