G54D (p.Gly54Asp) variant of SHANK2 (Q9UPX8)
G54D (p.Gly54Asp) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- TOPMed rs1187236989
- gnomAD rs1187236989
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 15.30
- PolyPhen-2 0.04
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)