T56K (p.Thr56Lys) variant of SHANK2 (Q9UPX8)
T56K (p.Thr56Lys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
T56K (p.Thr56Lys) variant details
- p.Thr56Lys
- ExAC rs782325822
- TOPMed rs782325822
- gnomAD rs782325822
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the South Asian population (allele frequency 6.3e-05)