R3K (p.Arg3Lys) variant of ITGA2B (Integrin alpha-IIb)
R3K (p.Arg3Lys) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- ExAC rs773301639
- gnomAD rs773301639
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.37
- MetaLR 0.69
- MetaSVM 0.51
- CADD 15.90
- PolyPhen-2 0.23
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available