I36M (p.Ile36Met) variant of NRAS (GTPase NRas)
I36M (p.Ile36Met) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
I36M (p.Ile36Met) variant details
- p.Ile36Met
- rs2101743991
- ClinGen CA341742123
- ClinVar RCV001822085
- Ensembl rs2101743991
- Likely pathogenic
- Noonan syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.52
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Noonan syndrome 6)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)