D90N (p.Asp90Asn) variant of DMD (Dystrophin)
D90N (p.Asp90Asn) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D90N (p.Asp90Asn) variant details
- p.Asp90Asn
- Ensembl rs2078437556
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.50
- MetaLR 0.82
- MetaSVM 0.83
- CADD 26.50
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available