V23G (p.Val23Gly) variant of IDUA (Alpha-L-iduronidase)
V23G (p.Val23Gly) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V23G (p.Val23Gly) variant details
- p.Val23Gly
- gnomAD rs1383976462
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 5.69
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available