A12P (p.Ala12Pro) variant of IDUA (Alpha-L-iduronidase)
A12P (p.Ala12Pro) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- gnomAD 4-987118-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.22
- PolyPhen-2 0.15
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available