R29H (p.Arg29His) variant of ITGB4 (Integrin beta-4)
R29H (p.Arg29His) 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 Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- 1000Genomes rs530665868
- ExAC rs530665868
- TOPMed rs530665868
- gnomAD rs530665868
- Uncertain significance
- Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.32
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.17
- ClinVar: Uncertain significance (Epidermolysis bullosa, junctional 5A, intermediate; Junctional e)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available