P128L (p.Pro128Leu) variant of MAP2K2 (P36507)
P128L (p.Pro128Leu) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MAP2K2-related disorder; Cardiofaciocutaneous syndrome 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P128L (p.Pro128Leu) variant details
- p.Pro128Leu
- rs267607230
- ClinGen CA9091012
- NCI-TCGA Cosmic COSV5356
- cosmic curated COSV53567
- Pathogenic/Likely pathogenic
- MAP2K2-related disorder; Cardiofaciocutaneous syndrome 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 0.96
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (MAP2K2-related disorder; Cardiofaciocutaneous syndrome 4; not pr)
- EBI: Pathogenic (in CFC4)
- UniProt: Pathogenic (in CFC4)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)