M1T (p.Met1Thr) variant of ITGB3 (Integrin beta-3)
M1T (p.Met1Thr) 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 Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1239823207
- ClinGen CA400028186
- ClinVar RCV003222578
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- MetaLR 0.12
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available