R30L (p.Arg30Leu) variant of SGCD (Delta-sarcoglycan)
R30L (p.Arg30Leu) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- cosmic curated COSV61904
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available