S36G (p.Ser36Gly) variant of MEF2C (Q06413)
S36G (p.Ser36Gly) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
S36G (p.Ser36Gly) variant details
- p.Ser36Gly
- rs2153074738
- ClinGen CA360425111
- ClinVar RCV001576604
- Ensembl rs2153074738
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.64
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available