I74N (p.Ile74Asn) variant of MAPK1 (P28482)
I74N (p.Ile74Asn) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual disability; Short stature; Atypical behavior. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes experimental measurements, published literature, and structural context.
I74N (p.Ile74Asn) variant details
- p.Ile74Asn
- rs2069154121
- ClinGen CA410867490
- ClinVar RCV001261413
- ClinVar RCV001264762
- Pathogenic
- Intellectual disability; Short stature; Atypical behavior
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.99
- MetaLR 0.47
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic (Intellectual disability; Short stature; Atypical behavior)
- EBI: Pathogenic (in NS13)
- UniProt: Pathogenic (in NS13)
- Structural context available
- MAPK1 VRT-11E: score 5.33
- 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)