I37V (p.Ile37Val) variant of DMD (Dystrophin)
I37V (p.Ile37Val) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- ExAC rs763415074
- TOPMed rs763415074
- gnomAD rs763415074
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.54
- MetaLR 0.80
- MetaSVM 0.70
- CADD 21.10
- PolyPhen-2 0.40
- SIFT 0.44
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available