A15D (p.Ala15Asp) variant of IDUA (Alpha-L-iduronidase)
A15D (p.Ala15Asp) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- gnomAD 4-987128-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 8.22
- PolyPhen-2 0.06
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available