S28C (p.Ser28Cys) variant of SHANK2 (Q9UPX8)
S28C (p.Ser28Cys) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- TOPMed rs1175615216
- gnomAD rs1175615216
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)