R29L (p.Arg29Leu) variant of ITGB4 (Integrin beta-4)
R29L (p.Arg29Leu) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- 1000Genomes rs530665868
- ExAC rs530665868
- TOPMed rs530665868
- gnomAD rs530665868
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.46
- CADD 22.50
- PolyPhen-2 0.55
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available