W29L (p.Trp29Leu) variant of SGCD (Delta-sarcoglycan)
W29L (p.Trp29Leu) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes population frequency data and structural context.
W29L (p.Trp29Leu) variant details
- p.Trp29Leu
- ExAC rs121909296
- gnomAD rs121909296
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available