L41I (p.Leu41Ile) variant of SGCD (Delta-sarcoglycan)
L41I (p.Leu41Ile) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L41I (p.Leu41Ile) variant details
- p.Leu41Ile
- rs769047953
- gnomAD 5-156344606-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.87
- MetaSVM 0.84
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available