T39A (p.Thr39Ala) variant of SGCA (Alpha-sarcoglycan)
T39A (p.Thr39Ala) 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; Inborn genetic disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T39A (p.Thr39Ala) variant details
- p.Thr39Ala
- rs540292629
- ClinGen CA8643696
- ClinVar RCV001000875
- ClinVar RCV002549144
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D; Inborn genetic disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.35
- CADD 16.80
- PolyPhen-2 0.09
- SIFT 0.32
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D; Inbo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)