L39R (p.Leu39Arg) variant of SGCD (Delta-sarcoglycan)
L39R (p.Leu39Arg) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- gnomAD rs1297825863
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available