V7L (p.Val7Leu) variant of HRAS (GTPase HRas)
V7L (p.Val7Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- rs2133995093
- cosmic curated COSV54242
- Ensembl rs2133995093
- ClinGen CA378926169
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.74
- AlphaMissense 0.99
- MetaLR 0.63
- MetaSVM 0.38
- CADD 24.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)