V77D (p.Val77Asp) variant of DMD (Dystrophin)
V77D (p.Val77Asp) 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 0.95 / 1. The record also includes structural context.
V77D (p.Val77Asp) variant details
- p.Val77Asp
- rs886042956
- ClinGen CA10604921
- ClinVar RCV000354234
- Ensembl rs886042956
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available