E40D (p.Glu40Asp) variant of ITGB4 (Integrin beta-4)
E40D (p.Glu40Asp) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- rs753782989
- NCI-TCGA Cosmic COSV5232
- cosmic curated COSV52328
- ExAC rs753782989
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.50
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available