A23D (p.Ala23Asp) variant of SGCA (Alpha-sarcoglycan)
A23D (p.Ala23Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- rs760528436
- ClinGen CA400176450
- cosmic curated COSV56249
- ClinVar RCV003129232
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.71
- CADD 20.60
- PolyPhen-2 0.31
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available