Y35C (p.Tyr35Cys) variant of SGCD (Delta-sarcoglycan)
Y35C (p.Tyr35Cys) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y35C (p.Tyr35Cys) variant details
- p.Tyr35Cys
- gnomAD 5-156344592-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available