H10R (p.His10Arg) variant of GAA (Lysosomal alpha-glucosidase)
H10R (p.His10Arg) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H10R (p.His10Arg) variant details
- p.His10Arg
- Ensembl rs2143823914
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.22
- MetaLR 0.34
- MetaSVM -0.79
- CADD 4.03
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available