T69M (p.Thr69Met) variant of SHANK2 (Q9UPX8)
T69M (p.Thr69Met) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
T69M (p.Thr69Met) variant details
- p.Thr69Met
- cosmic curated COSV58327
- ExAC rs782547223
- TOPMed rs782547223
- gnomAD rs782547223
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 26.20
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)