L19F (p.Leu19Phe) variant of KRAS (GTPase KRas)
L19F (p.Leu19Phe) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs121913538
- ClinGen CA16602501
- cosmic curated COSV55502
- ClinVar RCV001354208
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.80
- MetaLR 0.82
- MetaSVM 0.81
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in OES)
- UniProt: Pathogenic (in OES)
- Population evidence available
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.358
- Cited in: Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. (PMID 25808193)
- Cited in: Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys. (PMID 8456858)