I24N (p.Ile24Asn) variant of NRAS (GTPase NRas)
I24N (p.Ile24Asn) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
I24N (p.Ile24Asn) variant details
- p.Ile24Asn
- rs869025573
- ClinGen CA356968
- ClinVar RCV000208553
- ClinVar RCV000522652
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.99
- MetaLR 0.61
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)