R43H (p.Arg43His) variant of ITGB4 (Integrin beta-4)
R43H (p.Arg43His) 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 0.75 / 1. The record also includes population frequency data and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs778748791
- NCI-TCGA Cosmic COSV5232
- cosmic curated COSV52324
- ExAC rs778748791
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.70
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available