T89M (p.Thr89Met) variant of NOTCH2 (Q04721)
T89M (p.Thr89Met) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. 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.
T89M (p.Thr89Met) variant details
- p.Thr89Met
- cosmic curated COSV56706
- ESP rs138537504
- ExAC rs138537504
- TOPMed rs138537504
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.25
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available