L12P (p.Leu12Pro) variant of GAA (Lysosomal alpha-glucosidase)
L12P (p.Leu12Pro) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- ExAC rs776707342
- gnomAD rs776707342
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.62
- MetaLR 0.47
- MetaSVM -0.44
- CADD 21.80
- PolyPhen-2 0.45
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available