N75K (p.Asn75Lys) variant of DMD (Dystrophin)
N75K (p.Asn75Lys) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
N75K (p.Asn75Lys) variant details
- p.Asn75Lys
- ExAC rs770415559
- gnomAD rs770415559
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.75
- MetaLR 0.89
- MetaSVM 0.87
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available