S108R (p.Ser108Arg) variant of SHANK2 (Q9UPX8)
S108R (p.Ser108Arg) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
S108R (p.Ser108Arg) variant details
- p.Ser108Arg
- TOPMed rs1952032185
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 17.20
- PolyPhen-2 0.22
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available