Y4H (p.Tyr4His) variant of HRAS (GTPase HRas)
Y4H (p.Tyr4His) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y4H (p.Tyr4His) variant details
- p.Tyr4His
- rs1554885164
- ClinGen CA378926252
- cosmic curated COSV54239
- ClinVar RCV000590817
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.61
- AlphaMissense 0.94
- MetaLR 0.50
- MetaSVM 0.03
- CADD 24.60
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available