R86W (p.Arg86Trp) variant of SHANK2 (Q9UPX8)
R86W (p.Arg86Trp) 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 0.39 / 1. The record also includes population frequency data.
R86W (p.Arg86Trp) variant details
- p.Arg86Trp
- ESP rs377135249
- ExAC rs377135249
- TOPMed rs377135249
- gnomAD rs377135249
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 23.30
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)