N39K (p.Asn39Lys) variant of DMD (Dystrophin)
N39K (p.Asn39Lys) in DMD (Dystrophin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
N39K (p.Asn39Lys) variant details
- p.Asn39Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.62
- MetaLR 0.74
- MetaSVM 0.44
- CADD 22.90
- PolyPhen-2 0.21
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available