V14G (p.Val14Gly) variant of HRAS (GTPase HRas)
V14G (p.Val14Gly) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V14G (p.Val14Gly) variant details
- p.Val14Gly
- rs1589793707
- ClinGen CA378925982
- cosmic curated COSV54244
- ClinVar RCV000810329
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.87
- AlphaMissense 0.84
- MetaLR 0.82
- MetaSVM 0.83
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4e-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)