H612P (p.His612Pro) variant of GAA (Lysosomal alpha-glucosidase)
H612P (p.His612Pro) 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 0.75 / 1. The record also includes population frequency data and structural context.
H612P (p.His612Pro) variant details
- p.His612Pro
- rs760546238
- ClinGen CA401369560
- cosmic curated COSV10739
- ClinVar RCV000734236
- Uncertain significance
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.83
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Glycogen storage disease, type II)
- EBI: Variant of uncertain significance (in IOPD)
- UniProt: Uncertain significance (in IOPD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available