G18A (p.Gly18Ala) variant of SGCD (Delta-sarcoglycan)
G18A (p.Gly18Ala) 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 0.32 / 1. The record also includes structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- rs778664534
- ClinGen CA362007607
- ClinVar RCV003061979
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.44
- MetaSVM -0.23
- PolyPhen-2 0.86
- SIFT 0.09
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available