R2H (p.Arg2His) variant of IDUA (Alpha-L-iduronidase)
R2H (p.Arg2His) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- gnomAD rs1327366420
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.29
- MetaLR 0.74
- MetaSVM 0.11
- CADD 15.70
- PolyPhen-2 0.80
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3.7e-05)
- Structural context available