V37M (p.Val37Met) variant of MEF2C (Q06413)
V37M (p.Val37Met) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V37M (p.Val37Met) variant details
- p.Val37Met
- rs765658557
- ClinGen CA3337377
- ClinVar RCV003129165
- ClinVar RCV003619820
- Conflicting interpretations
- not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Neurodevelopmental disorder with hypotonia, stereo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)