A26S (p.Ala26Ser) variant of DYSF (Dysferlin)
A26S (p.Ala26Ser) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 2-71466915-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.36
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available