M144R (p.Met144Arg) variant of ITGB3 (Integrin beta-3)
M144R (p.Met144Arg) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
M144R (p.Met144Arg) variant details
- p.Met144Arg
- rs77963874
- ClinGen CA291224645
- ClinVar RCV001290482
- ClinVar RCV002222693
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- MetaLR 0.93
- MetaSVM 1.03
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing… (PMID 20020534)
- Cited in: Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PMID 10233432)