R47Q (p.Arg47Gln) variant of SYNGAP1 (Q96PV0)
R47Q (p.Arg47Gln) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R47Q (p.Arg47Gln) variant details
- p.Arg47Gln
- rs1034171771
- TOPMed rs1034171771
- gnomAD rs1034171771
- ClinGen CA137092869
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 24.90
- PolyPhen-2 0.61
- SIFT 0.10
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available