P44P (p.Pro44Pro) variant of DYSF (Dysferlin)
P44P (p.Pro44Pro) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P44P (p.Pro44Pro) variant details
- p.Pro44Pro
- rs886043852
- gnomAD 2-71480926-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.45
- Population evidence available
- Structural context available
- Literature evidence available