P73R (p.Pro73Arg) variant of SGCA (Alpha-sarcoglycan)
P73R (p.Pro73Arg) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
P73R (p.Pro73Arg) variant details
- p.Pro73Arg
- rs1482631076
- ClinGen CA400177449
- ClinVar RCV002727063
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.70
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available