Q61L (p.Gln61Leu) variant of KRAS (GTPase KRas)
Q61L (p.Gln61Leu) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Non-small cell lung carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
Q61L (p.Gln61Leu) variant details
- p.Gln61Leu
- rs121913240
- ClinGen CA210876
- NCI-TCGA Cosmic COSV5549
- NCI-TCGA Cosmic COSV5550
- Pathogenic
- Non-small cell lung carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.75
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (Non-small cell lung carcinoma)
- EBI: Pathogenic (in a colorectal cancer sample)
- UniProt: Pathogenic (in a colorectal cancer sample)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.202
- Cited in: Medullary thyroid cancer: management guidelines of the American Thyroid Association. (PMID 19469690)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)