L41P (p.Leu41Pro) variant of SGCD (Delta-sarcoglycan)
L41P (p.Leu41Pro) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- ExAC rs770112094
- gnomAD rs770112094
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available