K116E (p.Lys116Glu) variant of MEF2C (Q06413)
K116E (p.Lys116Glu) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
K116E (p.Lys116Glu) variant details
- p.Lys116Glu
- rs1777713411
- ClinGen CA360424541
- ClinVar RCV001318909
- ClinVar RCV001751612
- Uncertain significance
- not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.78
- MetaLR 0.80
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (not provided; Neurodevelopmental disorder with hypotonia, stereo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)