Y134H (p.Tyr134His) variant of MAP2K2 (P36507)
Y134H (p.Tyr134His) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y134H (p.Tyr134His) variant details
- p.Tyr134His
- rs121434499
- ClinGen CA119417
- ClinVar RCV000008763
- ClinVar RCV000043675
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (RASopathy)
- 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)