S4R (p.Ser4Arg) variant of AGL (Glycogen debranching enzyme)
S4R (p.Ser4Arg) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- ExAC rs758199444
- gnomAD rs758199444
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.13
- MetaSVM -0.99
- CADD 17.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available