F118L (p.Phe118Leu) variant of ITGA2B (Integrin alpha-IIb)
F118L (p.Phe118Leu) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
F118L (p.Phe118Leu) variant details
- p.Phe118Leu
- ExAC rs761165048
- TOPMed rs761165048
- gnomAD rs761165048
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.59
- MetaLR 0.59
- MetaSVM 0.11
- CADD 23.90
- PolyPhen-2 0.26
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available