P6L (p.Pro6Leu) variant of GAA (Lysosomal alpha-glucosidase)
P6L (p.Pro6Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs771409180
- ClinGen CA8814756
- ClinVar RCV000592568
- ClinVar RCV000694708
- Uncertain significance
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.25
- MetaLR 0.39
- MetaSVM -0.73
- CADD 5.36
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
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