A146T (p.Ala146Thr) variant of HRAS (GTPase HRas)
A146T (p.Ala146Thr) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
A146T (p.Ala146Thr) variant details
- p.Ala146Thr
- rs104894231
- Ensembl rs104894231
- cosmic curated COSV54243
- UniProt VAR 045982
- Pathogenic
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Costello syndrome)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. (PMID 17054105)
- Cited in: Germline mutations in HRAS proto-oncogene cause Costello syndrome. (PMID 16170316)