G13C (p.Gly13Cys) variant of NRAS (GTPase NRas)
G13C (p.Gly13Cys) in NRAS (GTPase NRas) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMNS and colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- rs121434595
- NCI-TCGA Cosmic COSV5473
- Pathogenic
- in CMNS and colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.77
- AlphaMissense 1.00
- MetaLR 0.56
- MetaSVM 0.13
- CADD 31.00
- PolyPhen-2 1.00
- EBI: Pathogenic (in CMNS and colorectal cancer)
- UniProt: Pathogenic (in CMNS and colorectal cancer)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available