P73L (p.Pro73Leu) variant of SGCA (Alpha-sarcoglycan)
P73L (p.Pro73Leu) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; 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 population frequency data and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- TOPMed rs1482631076
- gnomAD rs1482631076
- Conflicting interpretations
- not specified; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- AlphaMissense 0.70
- MetaLR 0.99
- MetaSVM 1.02
- CADD 28.30
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Autosomal recessive limb-girdle muscular dystroph)
- UniProt: Conflicting interpretations
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available