N73K (p.Asn73Lys) variant of MEF2C (Q06413)
N73K (p.Asn73Lys) 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 0.41 / 1. The record also includes population frequency data and structural context.
N73K (p.Asn73Lys) variant details
- p.Asn73Lys
- rs768621677
- ExAC rs768621677
- TOPMed rs768621677
- gnomAD rs768621677
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.54
- CADD 22.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available