W141C (p.Trp141Cys) variant of ITGA2B (Integrin alpha-IIb)
W141C (p.Trp141Cys) 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 0.65 / 1. The record also includes structural context.
W141C (p.Trp141Cys) variant details
- p.Trp141Cys
- rs2143489430
- ClinGen CA399806022
- ClinVar RCV002254819
- Ensembl rs2143489430
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 0.88
- MetaLR 0.70
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.41
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available