R59L (p.Arg59Leu) variant of ITGB4 (Integrin beta-4)
R59L (p.Arg59Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
R59L (p.Arg59Leu) variant details
- p.Arg59Leu
- NCI-TCGA Cosmic COSV5233
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.40
- CADD 19.70
- PolyPhen-2 0.52
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available