A26T (p.Ala26Thr) variant of DYSF (Dysferlin)
A26T (p.Ala26Thr) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs1181790709
- gnomAD 2-71466915-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.16
- CADD 23.10
- PolyPhen-2 0.32
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available