Y8* (p.Tyr8Ter) variant of DYSF (Dysferlin)
Y8* (p.Tyr8Ter) in DYSF (Dysferlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y8* (p.Tyr8Ter) variant details
- p.Tyr8Ter
- rs2080944539
- ClinGen CA347205987
- ClinVar RCV001388527
- ClinVar RCV001780363
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)