G13V (p.Gly13Val) variant of NRAS (GTPase NRas)
G13V (p.Gly13Val) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Noonan syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- Ensembl rs2101744219
- Likely pathogenic
- Cardiovascular phenotype; Noonan syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.79
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Noonan syndrome 6)
- EBI: Pathogenic (in CMNS and colorectal cancer)
- UniProt: Pathogenic (in CMNS and colorectal cancer)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available