F41L (p.Phe41Leu) variant of ITGA2B (Integrin alpha-IIb)
F41L (p.Phe41Leu) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F41L (p.Phe41Leu) variant details
- p.Phe41Leu
- TOPMed rs2048678390
- gnomAD rs2048678390
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.22
- MetaLR 0.21
- MetaSVM -0.91
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available