E4V (p.Glu4Val) variant of SGCD (Delta-sarcoglycan)
E4V (p.Glu4Val) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E4V (p.Glu4Val) variant details
- p.Glu4Val
- gnomAD 5-156344499-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.59
- ESM-1b 0.59
- AlphaMissense 0.43
- CADD 29.50
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available