P15R (p.Pro15Arg) variant of DYSF (Dysferlin)
P15R (p.Pro15Arg) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- rs1387187109
- gnomAD 2-71466910-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.60
- CADD 27.40
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Literature evidence available