I11V (p.Ile11Val) variant of MEF2C (Q06413)
I11V (p.Ile11Val) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar 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 0.71 / 1. The record also includes population frequency data and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- Ensembl rs528434394
- Uncertain significance
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.79
- CADD 25.40
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available