D119N (p.Asp119Asn) variant of KRAS (GTPase KRas)
D119N (p.Asp119Asn) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute myeloid leukemia; Autoimmune lymphoproliferative syndrome type 4; Cardiofa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
D119N (p.Asp119Asn) variant details
- p.Asp119Asn
- rs730880471
- ClinGen CA296084
- cosmic curated COSV55546
- ClinVar RCV000157937
- Likely pathogenic
- Acute myeloid leukemia; Autoimmune lymphoproliferative syndrome type 4; Cardiofa
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Acute myeloid leukemia; Autoimmune lymphoproliferative syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block2: score -0.351
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)