R4S (p.Arg4Ser) variant of GAA (Lysosomal alpha-glucosidase)
R4S (p.Arg4Ser) in GAA (Lysosomal alpha-glucosidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- gnomAD rs1168255772
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.29
- MetaLR 0.47
- MetaSVM -0.52
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available