N88Y (p.Asn88Tyr) variant of DMD (Dystrophin)
N88Y (p.Asn88Tyr) in DMD (Dystrophin) is a missense change. 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.
N88Y (p.Asn88Tyr) variant details
- p.Asn88Tyr
- ExAC rs769800814
- gnomAD rs769800814
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.79
- MetaLR 0.93
- MetaSVM 1.06
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available