D33Y (p.Asp33Tyr) variant of HRAS (GTPase HRas)
D33Y (p.Asp33Tyr) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Costello syndrome. The record also includes structural context.
D33Y (p.Asp33Tyr) variant details
- p.Asp33Tyr
- cosmic curated COSV54238
- Ensembl rs1851315835
- Uncertain significance
- Costello syndrome
- Missense
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available