S20Y (p.Ser20Tyr) variant of SHANK2 (Q9UPX8)
S20Y (p.Ser20Tyr) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
S20Y (p.Ser20Tyr) variant details
- p.Ser20Tyr
- ESP rs373335096
- ExAC rs373335096
- TOPMed rs373335096
- gnomAD rs373335096
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)