A59L (p.Ala59Leu) variant of KRAS (GTPase KRas)
A59L (p.Ala59Leu) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiofaciocutaneous syndrome 2. The record also includes experimental measurements, published literature, and structural context.
A59L (p.Ala59Leu) variant details
- p.Ala59Leu
- rs2548920539
- ClinGen CA2580085354
- ClinVar RCV003140510
- Likely pathogenic
- Cardiofaciocutaneous syndrome 2
- Missense
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 2)
- EBI: Likely pathogenic (in GASC)
- UniProt: Likely pathogenic (in GASC)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.212
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)