L20F (p.Leu20Phe) variant of ITGA2B (Integrin alpha-IIb)
L20F (p.Leu20Phe) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- rs777290147
- ExAC rs777290147
- TOPMed rs777290147
- gnomAD rs777290147
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.23
- MetaLR 0.59
- MetaSVM -0.36
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available