V9I (p.Val9Ile) variant of NRAS (GTPase NRas)
V9I (p.Val9Ile) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurocutaneous melanocytosis; Autoimmune lymphoproliferative syndrome type 4; Ep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- rs1553244682
- ClinGen CA341742733
- ClinVar RCV000545519
- ClinVar RCV002476203
- Uncertain significance
- Neurocutaneous melanocytosis; Autoimmune lymphoproliferative syndrome type 4; Ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.47
- CADD 26.50
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Neurocutaneous melanocytosis; Autoimmune lymphoproliferative syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)