A50A (p.Ala50Ala) variant of SGCD (Delta-sarcoglycan)
A50A (p.Ala50Ala) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A50A (p.Ala50Ala) variant details
- p.Ala50Ala
- rs1021837057
- gnomAD 5-156344638-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 11.60
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available