I53V (p.Ile53Val) variant of SGCD (Delta-sarcoglycan)
I53V (p.Ile53Val) 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 specified; Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- rs200671745
- ClinGen CA308785
- ClinVar RCV000183901
- ClinVar RCV000545954
- Uncertain significance
- not specified; Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscul
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.83
- MetaSVM 0.70
- PolyPhen-2 0.98
- SIFT 0.27
- ClinVar: Uncertain significance (not specified; Dilated cardiomyopathy 1L; Autosomal recessive li)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available