P6S (p.Pro6Ser) variant of ITGB4 (Integrin beta-4)
P6S (p.Pro6Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- ExAC rs747230853
- TOPMed rs747230853
- gnomAD rs747230853
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- CADD 8.41
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available