M59L (p.Met59Leu) variant of SGCD (Delta-sarcoglycan)
M59L (p.Met59Leu) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M59L (p.Met59Leu) variant details
- p.Met59Leu
- gnomAD 5-156344663-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.39
- ESM-1b 0.10
- AlphaMissense 0.47
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available