Q61R (p.Gln61Arg) variant of NRAS (GTPase NRas)
Q61R (p.Gln61Arg) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vascular malformation; Colorectal cancer; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Q61R (p.Gln61Arg) variant details
- p.Gln61Arg
- rs11554290
- Civic 96
- ClinGen CA123618
- NCI-TCGA Cosmic COSV5473
- Pathogenic
- Vascular malformation; Colorectal cancer; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.99
- MetaLR 0.59
- MetaSVM 0.29
- PolyPhen-2 0.21
- SIFT 0.03
- EVE 0.60
- ClinVar: Pathogenic (Vascular malformation; Colorectal cancer; not provided)
- EBI: Pathogenic (in CMNS, NCMS, KNEN and NMTC2)
- UniProt: Pathogenic (in CMNS, NCMS, KNEN and NMTC2)
- Structural context available
- Cited in: RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in… (PMID 12727991)
- Cited in: Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. (PMID 18633438)