M12T (p.Met12Thr) variant of SHANK2 (Q9UPX8)
M12T (p.Met12Thr) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
M12T (p.Met12Thr) variant details
- p.Met12Thr
- TOPMed rs1443512753
- gnomAD rs1443512753
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 17.10
- PolyPhen-2 0.09
- SIFT 0.18
- Most common in the South Asian population (allele frequency 2.5e-05)