R63L (p.Arg63Leu) variant of AGL (Glycogen debranching enzyme)
R63L (p.Arg63Leu) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R63L (p.Arg63Leu) variant details
- p.Arg63Leu
- cosmic curated COSV54061
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.08
- MetaSVM -1.06
- CADD 4.54
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available