A64T (p.Ala64Thr) variant of SGCA (Alpha-sarcoglycan)
A64T (p.Ala64Thr) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A64T (p.Ala64Thr) variant details
- p.Ala64Thr
- rs759692350
- ClinGen CA8643731
- ClinVar RCV000274092
- ClinVar RCV001859727
- Conflicting interpretations
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.55
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available