V44A (p.Val44Ala) variant of AGL (Glycogen debranching enzyme)
V44A (p.Val44Ala) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- cosmic curated COSV10439
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- ESM-1b 0.55
- AlphaMissense 0.57
- MetaLR 0.22
- MetaSVM -0.63
- CADD 25.60
- Structural context available