P21L (p.Pro21Leu) variant of IDUA (Alpha-L-iduronidase)
P21L (p.Pro21Leu) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD 4-987129-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.50
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available