G13R (p.Gly13Arg) variant of NRAS (GTPase NRas)
G13R (p.Gly13Arg) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Linear nevus sebaceous syndrome; Noonan syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs121434595
- Civic 896
- ClinGen CA151261
- NCI-TCGA Cosmic COSV5473
- Likely pathogenic
- not provided; Linear nevus sebaceous syndrome; Noonan syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.76
- AlphaMissense 1.00
- MetaLR 0.56
- MetaSVM 0.13
- CADD 29.10
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (not provided; Linear nevus sebaceous syndrome; Noonan syndrome 6)
- EBI: Pathogenic (in CMNS and colorectal cancer)
- UniProt: Pathogenic (in CMNS and colorectal cancer)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. (PMID 18633438)
- Cited in: Amino-acid substitution at codon 13 of the N-ras oncogene in rectal cancer in a Japanese patient. (PMID 3102434)