T12I (p.Thr12Ile) variant of SGCD (Delta-sarcoglycan)
T12I (p.Thr12Ile) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2F. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- rs1768840932
- ClinGen CA362007571
- ClinVar RCV001344133
- TOPMed rs1768840932
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- ESM-1b 0.08
- AlphaMissense 0.15
- MetaLR 0.49
- MetaSVM -0.33
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available