V24M (p.Val24Met) variant of SGCD (Delta-sarcoglycan)
V24M (p.Val24Met) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- gnomAD 5-156344558-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available