V85L (p.Val85Leu) variant of MEF2C (Q06413)
V85L (p.Val85Leu) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa. The record also includes structural context.
V85L (p.Val85Leu) variant details
- p.Val85Leu
- gnomAD rs1284065269
- Benign
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- ClinVar: Benign (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- UniProt: Benign
- Structural context available