F57L (p.Phe57Leu) variant of MAP2K2 (P36507)
F57L (p.Phe57Leu) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiofaciocutaneous syndrome 4; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- rs1057519910
- NCI-TCGA Cosmic COSV5356
- NCI-TCGA Cosmic COSV9950
- Ensembl rs1057519910
- Pathogenic
- Cardiofaciocutaneous syndrome 4; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.81
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.98
- CADD 23.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CFC4)
- UniProt: Pathogenic (in CFC4)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available