T32S (p.Thr32Ser) variant of SHANK2 (Q9UPX8)
T32S (p.Thr32Ser) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
T32S (p.Thr32Ser) variant details
- p.Thr32Ser
- TOPMed rs1420248139
- gnomAD rs1420248139
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)