A9P (p.Ala9Pro) variant of IDUA (Alpha-L-iduronidase)
A9P (p.Ala9Pro) in IDUA (Alpha-L-iduronidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD 4-987108-C-CCCCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available