P34Q (p.Pro34Gln) variant of KRAS (GTPase KRas)
P34Q (p.Pro34Gln) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of KRAS-related disorder. 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.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- rs104894366
- ClinGen CA384157234
- cosmic curated COSV55580
- ClinVar RCV004550646
- Likely pathogenic
- KRAS-related disorder
- 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: Likely pathogenic (KRAS-related disorder)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.663
- Cited in: Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. (PMID 17056636)
- Cited in: Germline KRAS mutations cause Noonan syndrome. (PMID 16474405)