L40F (p.Leu40Phe) variant of SGCD (Delta-sarcoglycan)
L40F (p.Leu40Phe) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- cosmic curated COSV61909
- ExAC rs769047953
- TOPMed rs769047953
- gnomAD rs769047953
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- ESM-1b 0.00
- AlphaMissense 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available