A57T (p.Ala57Thr) variant of SGCA (Alpha-sarcoglycan)
A57T (p.Ala57Thr) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.12 / 1. The record also includes population frequency data and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- rs769778891
- ClinGen CA8643727
- NCI-TCGA Cosmic COSV5625
- cosmic curated COSV56251
- Uncertain significance
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.16
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (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 0.00021)
- Structural context available