R86Q (p.Arg86Gln) variant of SHANK2 (Q9UPX8)
R86Q (p.Arg86Gln) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- cosmic curated COSV58328
- TOPMed rs1555100962
- gnomAD rs1555100962
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 9.12
- PolyPhen-2 0.01
- SIFT 0.94
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)