P8L (p.Pro8Leu) variant of ITGB4 (Integrin beta-4)
P8L (p.Pro8Leu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- TOPMed rs1180093286
- gnomAD rs1180093286
- Missense
- Variant Prioritization Score for Impact Estimate 0.0649
- REVEL 0.05
- CADD 4.22
- PolyPhen-2 0.12
- SIFT 0.15
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available