L66P (p.Leu66Pro) variant of SGCA (Alpha-sarcoglycan)
L66P (p.Leu66Pro) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L66P (p.Leu66Pro) variant details
- p.Leu66Pro
- ExAC rs767928766
- TOPMed rs767928766
- gnomAD rs767928766
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.91
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available