H117Q (p.His117Gln) variant of DMD (Dystrophin)
H117Q (p.His117Gln) 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.
H117Q (p.His117Gln) variant details
- p.His117Gln
- TOPMed rs1263398922
- gnomAD rs1263398922
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.74
- MetaLR 0.88
- MetaSVM 0.77
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available