R378C (p.Arg378Cys) variant of ITGB3 (Integrin beta-3)
R378C (p.Arg378Cys) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bleeding disorder, platelet-type, 24. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R378C (p.Arg378Cys) variant details
- p.Arg378Cys
- rs774332906
- ClinGen CA8623173
- NCI-TCGA Cosmic COSV7138
- cosmic curated COSV71383
- Likely pathogenic
- Bleeding disorder, platelet-type, 24
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- MetaLR 0.96
- MetaSVM 1.11
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bleeding disorder, platelet-type, 24)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available