Q20Q (p.Gln20Gln) variant of SGCD (Delta-sarcoglycan)
Q20Q (p.Gln20Gln) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q20Q (p.Gln20Gln) variant details
- p.Gln20Gln
- gnomAD 5-156344548-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 3.79
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available