L46P (p.Leu46Pro) variant of SGCD (Delta-sarcoglycan)
L46P (p.Leu46Pro) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- gnomAD 5-156344625-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.20
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available