Y62* (p.Tyr62Ter) variant of SGCA (Alpha-sarcoglycan)
Y62* (p.Tyr62Ter) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LGMDR3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Y62* (p.Tyr62Ter) variant details
- p.Tyr62Ter
- rs766400853
- ClinGen CA400177235
- ClinVar RCV003334456
- ClinGen CA8643729
- Pathogenic
- in LGMDR3
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 34.00
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available