A20P (p.Ala20Pro) variant of IDUA (Alpha-L-iduronidase)
A20P (p.Ala20Pro) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- gnomAD 4-987142-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 7.56
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 5e-05)
- Structural context available
- Literature evidence available