T33M (p.Thr33Met) variant of ITGB3 (Integrin beta-3)
T33M (p.Thr33Met) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T33M (p.Thr33Met) variant details
- p.Thr33Met
- rs544276300
- ClinGen CA8622851
- cosmic curated COSV71385
- ClinVar RCV003724990
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- MetaLR 0.10
- MetaSVM -1.02
- CADD 24.00
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available
- Cited in: A new low-frequency alloantigen (Kha(b) ) located on platelet glycoprotein IIIa as a cause of maternal sensitization… (PMID 25494608)