R74W (p.Arg74Trp) variant of ITGB4 (Integrin beta-4)
R74W (p.Arg74Trp) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs772790459
- ClinGen CA8768602
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99564
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.30
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)