V24L (p.Val24Leu) variant of SGCD (Delta-sarcoglycan)
V24L (p.Val24Leu) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- Ensembl rs1768844706
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- ESM-1b 1.00
- AlphaMissense 0.83
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available