D20T (p.Asp20Thr) variant of SGCA (Alpha-sarcoglycan)
D20T (p.Asp20Thr) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D20T (p.Asp20Thr) variant details
- p.Asp20Thr
- rs1213781897
- gnomAD 17-50167383-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 23.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available