A11T (p.Ala11Thr) variant of HRAS (GTPase HRas)
A11T (p.Ala11Thr) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs727504496
- ClinGen CA183175
- cosmic curated COSV54237
- ClinVar RCV000155632
- Uncertain significance
- Cardiovascular phenotype; not specified; Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.36
- AlphaMissense 0.61
- MetaLR 0.27
- MetaSVM -0.47
- CADD 19.70
- PolyPhen-2 0.29
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)