P34R (p.Pro34Arg) variant of KRAS (GTPase KRas)
P34R (p.Pro34Arg) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome 3; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- rs104894366
- ClinGen CA280040
- NCI-TCGA Cosmic COSV5558
- Pathogenic/Likely pathogenic
- Noonan syndrome 3; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome 3; Acute myeloid leukemia; Cardiofaciocutaneous)
- EBI: Pathogenic (in CFC2)
- UniProt: Pathogenic (in CFC2)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.663
- Cited in: Germline KRAS mutations cause Noonan syndrome. (PMID 16474405)
- Cited in: Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. (PMID 20949621)