N16K (p.Asn16Lys) variant of MEF2C (Q06413)
N16K (p.Asn16Lys) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic 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 0.80 / 1. The record also includes population frequency data and structural context.
N16K (p.Asn16Lys) variant details
- p.Asn16Lys
- cosmic curated COSV10742
- Pathogenic
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.82
- CADD 26.30
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with hypotonia, stereotypic hand mov)
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available