I43S (p.Ile43Ser) variant of SGCD (Delta-sarcoglycan)
I43S (p.Ile43Ser) 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 0.77 / 1. The record also includes population frequency data and structural context.
I43S (p.Ile43Ser) variant details
- p.Ile43Ser
- rs1419851820
- ClinGen CA362007755
- ClinVar RCV002042719
- gnomAD rs1419851820
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- 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