V89D (p.Val89Asp) variant of DMD (Dystrophin)
V89D (p.Val89Asp) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V89D (p.Val89Asp) variant details
- p.Val89Asp
- rs1557058441
- ClinGen CA412674610
- cosmic curated COSV99918
- ClinVar RCV000596213
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available