R47W (p.Arg47Trp) variant of SYNGAP1 (Q96PV0)
R47W (p.Arg47Trp) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar 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 0.81 / 1. The record also includes population frequency data and structural context.
R47W (p.Arg47Trp) variant details
- p.Arg47Trp
- rs1264547497
- gnomAD rs1264547497
- NCI-TCGA Cosmic COSV9953
- cosmic curated COSV99538
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 29.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available