S112F (p.Ser112Phe) variant of ITGA2B (Integrin alpha-IIb)
S112F (p.Ser112Phe) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S112F (p.Ser112Phe) variant details
- p.Ser112Phe
- ExAC rs759911076
- gnomAD rs759911076
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.87
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available