L41F (p.Leu41Phe) variant of SGCD (Delta-sarcoglycan)
L41F (p.Leu41Phe) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- rs769047953
- gnomAD 5-156344606-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.87
- MetaSVM 0.84
- CADD 23.40
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available