I36V (p.Ile36Val) variant of HRAS (GTPase HRas)
I36V (p.Ile36Val) 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 0.42 / 1. The record also includes published literature and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- rs1060502663
- ClinGen CA16613600
- cosmic curated COSV54242
- ClinVar RCV000475424
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.95
- MetaLR 0.43
- MetaSVM -0.21
- PolyPhen-2 0.01
- SIFT 0.04
- EVE 0.27
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)