A65V (p.Ala65Val) variant of ITGB4 (Integrin beta-4)
A65V (p.Ala65Val) 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 ITGB4-related disorder; Epidermolysis bullosa, junctional 5A, intermediate; Junc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- rs200966154
- ClinGen CA8768596
- cosmic curated COSV52331
- ClinVar RCV002956852
- Uncertain significance
- ITGB4-related disorder; Epidermolysis bullosa, junctional 5A, intermediate; Junc
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.11
- CADD 11.80
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (ITGB4-related disorder; Epidermolysis bullosa, junctional 5A, in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)