D102N (p.Asp102Asn) variant of MEF2C (Q06413)
D102N (p.Asp102Asn) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D102N (p.Asp102Asn) variant details
- p.Asp102Asn
- cosmic curated COSV10522
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.35
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available