L10S (p.Leu10Ser) variant of AGL (Glycogen debranching enzyme)
L10S (p.Leu10Ser) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L10S (p.Leu10Ser) variant details
- p.Leu10Ser
- rs751263993
- gnomAD 1-99852695-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.95
- MetaLR 0.13
- MetaSVM -0.95
- CADD 2.02
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available