R73Q (p.Arg73Gln) variant of SHANK2 (Q9UPX8)
R73Q (p.Arg73Gln) 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 0.74 / 1. The record also includes population frequency data.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- cosmic curated COSV10591
- TOPMed rs1555100977
- gnomAD rs1555100977
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)