F57V (p.Phe57Val) variant of MAP2K2 (P36507)
F57V (p.Phe57Val) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
F57V (p.Phe57Val) variant details
- p.Phe57Val
- rs121434498
- ClinGen CA279960
- NCI-TCGA Cosmic COSV5356
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC4)
- UniProt: Pathogenic (in CFC4)
- Structural context available
- Cited in: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. (PMID 18042262)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)