P63R (p.Pro63Arg) variant of DMD (Dystrophin)
P63R (p.Pro63Arg) in DMD (Dystrophin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P63R (p.Pro63Arg) variant details
- p.Pro63Arg
- gnomAD rs1183396783
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.70
- MetaLR 0.77
- MetaSVM 0.57
- CADD 23.10
- PolyPhen-2 0.73
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available