M1T (p.Met1Thr) variant of MEF2C (Q06413)
M1T (p.Met1Thr) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs545185248
- ClinGen CA205953
- ClinVar RCV000192846
- ClinVar RCV000254756
- Pathogenic/Likely pathogenic
- not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 1.00
- MutPred 0.76
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neurodevelopmental disorder with hypotonia, stereo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)