P34L (p.Pro34Leu) variant of NRAS (GTPase NRas)
P34L (p.Pro34Leu) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermal nevus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs397514553
- ClinGen CA130423
- NCI-TCGA Cosmic COSV5473
- NCI-TCGA Cosmic COSV5475
- Pathogenic
- Epidermal nevus
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Epidermal nevus)
- EBI: Pathogenic (in KNEN)
- UniProt: Pathogenic (in KNEN)
- Structural context available
- Cited in: Keratinocytic epidermal nevi are associated with mosaic RAS mutations. (PMID 22499344)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)