I43V (p.Ile43Val) variant of SGCD (Delta-sarcoglycan)
I43V (p.Ile43Val) 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 0.38 / 1. The record also includes structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- rs1768851759
- ClinGen CA362007752
- ClinVar RCV002895123
- NCI-TCGA TCGA novel
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.66
- MetaSVM 0.20
- PolyPhen-2 0.39
- SIFT 0.71
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available