Q5R (p.Gln5Arg) variant of SGCD (Delta-sarcoglycan)
Q5R (p.Gln5Arg) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- TOPMed rs1199764097
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- ESM-1b 0.00
- AlphaMissense 0.15
- Population evidence available
- Structural context available