A44V (p.Ala44Val) variant of MEF2C (Q06413)
A44V (p.Ala44Val) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- rs1799664202
- ClinGen CA360425052
- NCI-TCGA Cosmic COSV6092
- cosmic curated COSV60929
- Uncertain significance
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.80
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.73
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)