Y4C (p.Tyr4Cys) variant of HRAS (GTPase HRas)
Y4C (p.Tyr4Cys) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thyroid cancer, nonmedullary, 2; Linear nevus sebaceous syndrome; Malignant tumo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y4C (p.Tyr4Cys) variant details
- p.Tyr4Cys
- rs764622691
- ClinGen CA5779438
- ClinVar RCV000598510
- ClinVar RCV001322927
- Uncertain significance
- Thyroid cancer, nonmedullary, 2; Linear nevus sebaceous syndrome; Malignant tumo
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.50
- AlphaMissense 0.85
- MetaLR 0.46
- MetaSVM -0.21
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Thyroid cancer, nonmedullary, 2; Linear nevus sebaceous syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)