V89I (p.Val89Ile) variant of DMD (Dystrophin)
V89I (p.Val89Ile) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V89I (p.Val89Ile) variant details
- p.Val89Ile
- TOPMed rs1334376403
- gnomAD rs1334376403
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.52
- MetaLR 0.80
- MetaSVM 0.66
- CADD 24.30
- PolyPhen-2 0.19
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available