P6T (p.Pro6Thr) variant of ITGB4 (Integrin beta-4)
P6T (p.Pro6Thr) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- ExAC rs747230853
- TOPMed rs747230853
- gnomAD rs747230853
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.13
- CADD 12.90
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available