Y22H (p.Tyr22His) variant of SGCD (Delta-sarcoglycan)
Y22H (p.Tyr22His) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SGCD-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
Y22H (p.Tyr22His) variant details
- p.Tyr22His
- rs1768843843
- ClinGen CA362007627
- ClinVar RCV003406208
- Ensembl rs1768843843
- Uncertain significance
- SGCD-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- ESM-1b 0.56
- AlphaMissense 0.47
- MetaLR 0.87
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (SGCD-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available