C24R (p.Cys24Arg) variant of ITGA2B (Integrin alpha-IIb)
C24R (p.Cys24Arg) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
C24R (p.Cys24Arg) variant details
- p.Cys24Arg
- ExAC rs765144213
- gnomAD rs765144213
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.14
- MetaLR 0.43
- MetaSVM -0.64
- CADD 0.52
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available