V17E (p.Val17Glu) variant of SGCD (Delta-sarcoglycan)
V17E (p.Val17Glu) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V17E (p.Val17Glu) variant details
- p.Val17Glu
- gnomAD 5-156344538-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available