L40P (p.Leu40Pro) variant of SGCD (Delta-sarcoglycan)
L40P (p.Leu40Pro) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- gnomAD 5-156344604-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.70
- 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