V23E (p.Val23Glu) variant of IDUA (Alpha-L-iduronidase)
V23E (p.Val23Glu) 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, published literature, and structural context.
V23E (p.Val23Glu) variant details
- p.Val23Glu
- gnomAD 4-987152-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 5.22
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available
- Literature evidence available