Y29S (p.Tyr29Ser) variant of AGL (Glycogen debranching enzyme)
Y29S (p.Tyr29Ser) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Y29S (p.Tyr29Ser) variant details
- p.Tyr29Ser
- Ensembl rs2101084414
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.05
- MetaSVM -1.10
- CADD 18.59
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available