R43L (p.Arg43Leu) variant of ITGB4 (Integrin beta-4)
R43L (p.Arg43Leu) 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 0.71 / 1. The record also includes population frequency data and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- NCI-TCGA Cosmic COSV5232
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.67
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available