V21Y (p.Val21Tyr) variant of SGCD (Delta-sarcoglycan)
V21Y (p.Val21Tyr) in SGCD (Delta-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V21Y (p.Val21Tyr) variant details
- p.Val21Tyr
- rs1768843133
- gnomAD 5-156344547-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available