L40I (p.Leu40Ile) variant of SGCD (Delta-sarcoglycan)
L40I (p.Leu40Ile) 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 0.49 / 1. The record also includes structural context.
L40I (p.Leu40Ile) variant details
- p.Leu40Ile
- rs769047953
- ClinGen CA362007733
- ClinVar RCV001350745
- ExAC rs769047953
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.87
- MetaSVM 0.84
- PolyPhen-2 0.90
- SIFT 0.12
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available