A137G (p.Ala137Gly) variant of ITGA2B (Integrin alpha-IIb)
A137G (p.Ala137Gly) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A137G (p.Ala137Gly) variant details
- p.Ala137Gly
- ExAC rs750825065
- gnomAD rs750825065
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.71
- MetaLR 0.60
- MetaSVM 0.34
- CADD 33.00
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available