I33M (p.Ile33Met) variant of SHANK2 (Q9UPX8)
I33M (p.Ile33Met) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- TOPMed rs1392856209
- gnomAD rs1392856209
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 19.30
- PolyPhen-2 0.37
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.8e-05)