D47N (p.Asp47Asn) variant of ITGB4 (Integrin beta-4)
D47N (p.Asp47Asn) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- gnomAD rs1403608717
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.49
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available