T36M (p.Thr36Met) variant of SHANK2 (Q9UPX8)
T36M (p.Thr36Met) in SHANK2 (Q9UPX8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
T36M (p.Thr36Met) variant details
- p.Thr36Met
- rs782758703
- ExAC rs782758703
- TOPMed rs782758703
- gnomAD rs782758703
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 23.20
- PolyPhen-2 0.34
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 8.8e-05)