W29S (p.Trp29Ser) variant of SGCD (Delta-sarcoglycan)
W29S (p.Trp29Ser) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
W29S (p.Trp29Ser) variant details
- p.Trp29Ser
- rs121909296
- ClinGen CA362007672
- ClinVar RCV000522372
- ExAC rs121909296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available