L13F (p.Leu13Phe) variant of ITGA2B (Integrin alpha-IIb)
L13F (p.Leu13Phe) in ITGA2B (Integrin alpha-IIb) is a missense change. 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.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- ExAC rs780972212
- gnomAD rs780972212
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.18
- MetaLR 0.59
- MetaSVM -0.27
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available