V8M (p.Val8Met) variant of NRAS (GTPase NRas)
V8M (p.Val8Met) 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 0.45 / 1. The record also includes structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- rs2101744314
- ClinGen CA341742748
- ClinVar RCV001891891
- Ensembl rs2101744314
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.96
- MetaLR 0.46
- MetaSVM -0.14
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.22
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available