V14G (p.Val14Gly) variant of NRAS (GTPase NRas)
V14G (p.Val14Gly) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
V14G (p.Val14Gly) variant details
- p.Val14Gly
- rs1308441238
- ClinGen CA341742653
- ClinVar RCV002619475
- gnomAD rs1308441238
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available