F41S (p.Phe41Ser) variant of ITGA2B (Integrin alpha-IIb)
F41S (p.Phe41Ser) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F41S (p.Phe41Ser) variant details
- p.Phe41Ser
- TOPMed rs2048678361
- gnomAD rs2048678361
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.28
- MetaLR 0.32
- MetaSVM -0.69
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available