A26P (p.Ala26Pro) variant of DYSF (Dysferlin)
A26P (p.Ala26Pro) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A26P (p.Ala26Pro) variant details
- p.Ala26Pro
- gnomAD 2-71466915-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.48
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available