P34L (p.Pro34Leu) variant of HRAS (GTPase HRas)
P34L (p.Pro34Leu) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs2133994210
- ClinGen CA378924959
- cosmic curated COSV10720
- ClinVar RCV001360851
- Likely benign
- not specified; Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.81
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.51
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Likely benign (not specified; Costello 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)