V35L (p.Val35Leu) variant of ITGB4 (Integrin beta-4)
V35L (p.Val35Leu) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- ExAC rs759223935
- gnomAD rs759223935
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.43
- CADD 23.90
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available