P34L (p.Pro34Leu) variant of KRAS (GTPase KRas)
P34L (p.Pro34Leu) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome. 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.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs104894366
- ClinGen CA235301
- NCI-TCGA Cosmic COSV5558
- Pathogenic
- Noonan syndrome
- 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: Pathogenic (Noonan syndrome)
- 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: Noonan Syndrome. (PMID 20301303)