L39F (p.Leu39Phe) variant of ITGA2B (Integrin alpha-IIb)
L39F (p.Leu39Phe) 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.
L39F (p.Leu39Phe) variant details
- p.Leu39Phe
- ExAC rs775961648
- gnomAD rs775961648
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.14
- MetaLR 0.34
- MetaSVM -0.83
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available