G54C (p.Gly54Cys) variant of SHANK2 (Q9UPX8)
G54C (p.Gly54Cys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- gnomAD rs1555106859
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 17.60
- PolyPhen-2 0.33
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)