p.Leu42dup variant of SGCD (Delta-sarcoglycan)
p.Leu42dup in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu42dup variant details
- gnomAD 5-156344605-G-GCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 18.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available