V17G (p.Val17Gly) variant of SGCD (Delta-sarcoglycan)
V17G (p.Val17Gly) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V17G (p.Val17Gly) variant details
- p.Val17Gly
- gnomAD 5-156344538-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available