R35C (p.Arg35Cys) variant of UBE3A (Ubiquitin-protein ligase E3A)
R35C (p.Arg35Cys) in UBE3A (Ubiquitin-protein ligase E3A) 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 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R35C (p.Arg35Cys) variant details
- p.Arg35Cys
- rs369572863
- cosmic curated COSV99217
- ESP rs369572863
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.99
- MetaLR 0.14
- MetaSVM -1.02
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- UBE3A Ubiquitin-protein ligase E3A, N-terminal zinc-binding domain domainome 1.0: score -0.333