G13D (p.Gly13Asp) variant of NRAS (GTPase NRas)
G13D (p.Gly13Asp) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of NRAS-related disorder; Acute megakaryoblastic leukemia in down syndrome; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- rs121434596
- ClinGen CA123620
- NCI-TCGA Cosmic COSV5473
- Pathogenic/Likely pathogenic
- NRAS-related disorder; Acute megakaryoblastic leukemia in down syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.70
- CADD 24.50
- PolyPhen-2 0.32
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic (NRAS-related disorder; Acute megakaryoblastic leukemia in down s)
- EBI: Pathogenic (in RALD and JMML)
- UniProt: Pathogenic (in RALD and JMML)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific… (PMID 17332249)
- Cited in: NRAS mutation causes a human autoimmune lymphoproliferative syndrome. (PMID 17517660)