M51V (p.Met51Val) variant of SGCD (Delta-sarcoglycan)
M51V (p.Met51Val) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M51V (p.Met51Val) variant details
- p.Met51Val
- gnomAD 5-156344639-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available