T12T (p.Thr12Thr) variant of SGCD (Delta-sarcoglycan)
T12T (p.Thr12Thr) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T12T (p.Thr12Thr) variant details
- p.Thr12Thr
- rs1389925447
- gnomAD 5-156344524-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 8.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available