R41H (p.Arg41His) variant of SYNGAP1 (Q96PV0)
R41H (p.Arg41His) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs536084145
- 1000Genomes rs536084145
- ExAC rs536084145
- TOPMed rs536084145
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 25.00
- PolyPhen-2 0.85
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available