R59Q (p.Arg59Gln) variant of ITGB4 (Integrin beta-4)
R59Q (p.Arg59Gln) 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 0.34 / 1. The record also includes population frequency data and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- rs201532846
- NCI-TCGA Cosmic COSV5233
- cosmic curated COSV52332
- 1000Genomes rs201532846
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.29
- CADD 19.00
- PolyPhen-2 0.72
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available