S50N (p.Ser50Asn) variant of MEF2C (Q06413)
S50N (p.Ser50Asn) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- cosmic curated COSV60942
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.57
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.93
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available