V44V (p.Val44Val) variant of AGL (Glycogen debranching enzyme)
V44V (p.Val44Val) in AGL (Glycogen debranching enzyme) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V44V (p.Val44Val) variant details
- p.Val44Val
- rs1317045410
- gnomAD 1-99861552-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 6.63
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available