A146V (p.Ala146Val) variant of HRAS (GTPase HRas)
A146V (p.Ala146Val) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A146V (p.Ala146Val) variant details
- p.Ala146Val
- rs121917759
- Ensembl rs121917759
- ClinGen CA256494
- cosmic curated COSV10720
- Likely pathogenic
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Costello syndrome)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? (PMID 18247425)
- Cited in: Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma. (PMID 28487882)