Q67H (p.Gln67His) variant of SHANK2 (Q9UPX8)
Q67H (p.Gln67His) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
Q67H (p.Gln67His) variant details
- p.Gln67His
- TOPMed rs1357357893
- gnomAD rs1357357893
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)