R74Q (p.Arg74Gln) variant of ITGB4 (Integrin beta-4)
R74Q (p.Arg74Gln) 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 0.19 / 1. The record also includes population frequency data and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs1233389477
- TOPMed rs1233389477
- gnomAD rs1233389477
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.28
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.59
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available