I36T (p.Ile36Thr) variant of HRAS (GTPase HRas)
I36T (p.Ile36Thr) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- rs775056058
- ClinGen CA216883279
- ClinVar RCV001888117
- Ensembl rs775056058
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.88
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.33
- CADD 25.00
- PolyPhen-2 0.36
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)