H104N (p.His104Asn) variant of DMD (Dystrophin)
H104N (p.His104Asn) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
H104N (p.His104Asn) variant details
- p.His104Asn
- ExAC rs757270951
- gnomAD rs757270951
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.71
- MetaLR 0.89
- MetaSVM 0.86
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available