N49S (p.Asn49Ser) variant of MEF2C (Q06413)
N49S (p.Asn49Ser) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
N49S (p.Asn49Ser) variant details
- p.Asn49Ser
- cosmic curated COSV60932
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.61
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available