Q61H (p.Gln61His) variant of KRAS (GTPase KRas)
Q61H (p.Gln61His) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Colorectal cancer; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q61H (p.Gln61His) variant details
- p.Gln61His
- rs17851045
- ClinGen CA180922
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55498
- Conflicting interpretations
- Colorectal cancer; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.26
- PolyPhen-2 0.41
- SIFT 0.01
- EVE 0.64
- ClinVar: Conflicting classifications of pathogenicity (Colorectal cancer; not provided; Cardiovascular phenotype)
- EBI: Pathogenic (in lung carcinoma)
- UniProt: Pathogenic (in lung carcinoma)
- Population evidence available
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.202
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with… (PMID 16533793)