R63K (p.Arg63Lys) variant of ITGA2B (Integrin alpha-IIb)
R63K (p.Arg63Lys) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R63K (p.Arg63Lys) variant details
- p.Arg63Lys
- rs767688038
- ClinGen CA8603528
- ClinVar RCV002254825
- ExAC rs767688038
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.09
- MetaLR 0.22
- MetaSVM -0.89
- CADD 25.40
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available