N81K (p.Asn81Lys) variant of MEF2C (Q06413)
N81K (p.Asn81Lys) in MEF2C (Q06413) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
N81K (p.Asn81Lys) variant details
- p.Asn81Lys
- ExAC rs745588042
- TOPMed rs745588042
- gnomAD rs745588042
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.47
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available