T17A (p.Thr17Ala) variant of DYSF (Dysferlin)
T17A (p.Thr17Ala) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- rs2080945647
- ClinGen CA347206207
- ClinVar RCV002016294
- TOPMed rs2080945647
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)