H63Y (p.His63Tyr) variant of SGCA (Alpha-sarcoglycan)
H63Y (p.His63Tyr) in SGCA (Alpha-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 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
H63Y (p.His63Tyr) variant details
- p.His63Tyr
- rs1905021704
- ClinGen CA400177243
- ClinVar RCV001361257
- Ensembl rs1905021704
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.21
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.55
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available