V107I (p.Val107Ile) variant of MEF2C (Q06413)
V107I (p.Val107Ile) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The record also includes population frequency data, published literature, and structural context.
V107I (p.Val107Ile) variant details
- p.Val107Ile
- rs750647048
- ClinGen CA360424604
- cosmic curated COSV60936
- ClinVar RCV001299508
- Benign
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- ClinVar: Benign (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: MEF2C-Related Disorder. (PMID 39666846)