T50I (p.Thr50Ile) variant of NRAS (GTPase NRas)
T50I (p.Thr50Ile) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- rs267606921
- ClinGen CA257019
- ClinVar RCV000014916
- ClinVar RCV000208537
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.69
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.04
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS6)
- UniProt: Pathogenic (in NS6)
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Cited in: A restricted spectrum of NRAS mutations causes Noonan syndrome. (PMID 19966803)
- Cited in: Noonan Syndrome. (PMID 20301303)