R19W (p.Arg19Trp) variant of ITGA6 (Integrin alpha-6)
R19W (p.Arg19Trp) in ITGA6 (Integrin alpha-6) 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; Epidermolysis bullosa, junctional 6, with. 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.
R19W (p.Arg19Trp) variant details
- p.Arg19Trp
- rs150472149
- ClinGen CA1967703
- ClinVar RCV002638396
- ClinVar RCV002654826
- Uncertain significance
- not provided; Inborn genetic diseases; Epidermolysis bullosa, junctional 6, with
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Epidermolysis bullosa, ju)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)