L72M (p.Leu72Met) variant of SGCA (Alpha-sarcoglycan)
L72M (p.Leu72Met) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L72M (p.Leu72Met) variant details
- p.Leu72Met
- gnomAD rs1234995642
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.70
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available