N26D (p.Asn26Asp) variant of DMD (Dystrophin)
N26D (p.Asn26Asp) in DMD (Dystrophin) 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 0.75 / 1. The record also includes population frequency data and structural context.
N26D (p.Asn26Asp) variant details
- p.Asn26Asp
- rs1057521321
- ClinGen CA16608458
- ClinVar RCV000439606
- ClinVar RCV000762617
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.81
- AlphaMissense 0.69
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.50
- PolyPhen-2 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available