H80Y (p.His80Tyr) variant of MAPK1 (P28482)
H80Y (p.His80Tyr) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome 13; not provided; Microcephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes experimental measurements, published literature, and structural context.
H80Y (p.His80Tyr) variant details
- p.His80Tyr
- rs2069154005
- ClinGen CA410867453
- ClinVar RCV001261414
- ClinVar RCV006557089
- Pathogenic
- Noonan syndrome 13; not provided; Microcephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic (Noonan syndrome 13; not provided; Microcephaly)
- EBI: Pathogenic (in NS13)
- UniProt: Pathogenic (in NS13)
- Structural context available
- MAPK1 VRT-11E: score 5.37
- Cited in: Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. (PMID 32721402)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)