E4E (p.Glu4Glu) variant of SGCD (Delta-sarcoglycan)
E4E (p.Glu4Glu) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E4E (p.Glu4Glu) variant details
- p.Glu4Glu
- rs549319429
- gnomAD 5-156344500-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- AlphaMissense 0.22
- MetaLR 0.53
- MetaSVM -0.47
- CADD 5.02
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available