Q61R (p.Gln61Arg) variant of KRAS (GTPase KRas)
Q61R (p.Gln61Arg) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vascular malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q61R (p.Gln61Arg) variant details
- p.Gln61Arg
- Ensembl rs2141510086
- Pathogenic
- Vascular malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.80
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.75
- CADD 22.90
- PolyPhen-2 0.98
- ClinVar: Pathogenic (Vascular malformation)
- EBI: Pathogenic (in a colorectal cancer sample)
- UniProt: Pathogenic (in a colorectal cancer sample)
- Population evidence available
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.202
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: Structure of the MRAS-SHOC2-PP1C phosphatase complex. (PMID 35830882)