A16G (p.Ala16Gly) variant of ITGB4 (Integrin beta-4)
A16G (p.Ala16Gly) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- ExAC rs773548728
- TOPMed rs773548728
- gnomAD rs773548728
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.11
- CADD 15.30
- PolyPhen-2 0.17
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available