Q61K (p.Gln61Lys) variant of HRAS (GTPase HRas)
Q61K (p.Gln61Lys) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermal nevus; Noonan syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
Q61K (p.Gln61Lys) variant details
- p.Gln61Lys
- rs28933406
- ClinGen CA122547
- NCI-TCGA Cosmic COSV5423
- cosmic curated COSV54236
- Pathogenic/Likely pathogenic
- not provided; Epidermal nevus; Noonan syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.79
- MetaLR 0.52
- MetaSVM 0.19
- PolyPhen-2 0.52
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermal nevus; Noonan syndrome 3)
- EBI: Pathogenic (in NMTC2)
- UniProt: Pathogenic (in NMTC2)
- Structural context available
- Cited in: RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in… (PMID 12727991)
- Cited in: Transformation efficiency of RasQ61 mutants linked to structural features of the switch regions in the presence of Raf. (PMID 18073111)