T56M (p.Thr56Met) variant of SHANK2 (Q9UPX8)
T56M (p.Thr56Met) in SHANK2 (Q9UPX8) 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 0.40 / 1. The record also includes population frequency data.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- ExAC rs782325822
- TOPMed rs782325822
- gnomAD rs782325822
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)