S25T (p.Ser25Thr) variant of DYSF (Dysferlin)
S25T (p.Ser25Thr) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S25T (p.Ser25Thr) variant details
- p.Ser25Thr
- rs1342818734
- gnomAD 2-71466919-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.17
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available