V92M (p.Val92Met) variant of DMD (Dystrophin)
V92M (p.Val92Met) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V92M (p.Val92Met) variant details
- p.Val92Met
- gnomAD rs1211544333
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.84
- MetaLR 0.95
- MetaSVM 1.09
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available