V20I (p.Val20Ile) variant of ITGB4 (Integrin beta-4)
V20I (p.Val20Ile) 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 0.06 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- rs751173051
- ExAC rs751173051
- TOPMed rs751173051
- gnomAD rs751173051
- Uncertain significance
- Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul
- Missense
- Variant Prioritization Score for Impact Estimate 0.0624
- REVEL 0.07
- CADD 0.36
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Epidermolysis bullosa, junctional 5A, intermediate; Junctional e)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available