V21L (p.Val21Leu) variant of SGCD (Delta-sarcoglycan)
V21L (p.Val21Leu) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- gnomAD 5-156344549-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.46
- ESM-1b 0.31
- AlphaMissense 0.19
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available