D52Y (p.Asp52Tyr) variant of DMD (Dystrophin)
D52Y (p.Asp52Tyr) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D52Y (p.Asp52Tyr) variant details
- p.Asp52Tyr
- gnomAD rs1448085412
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.73
- MetaLR 0.82
- MetaSVM 0.77
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available