A8V (p.Ala8Val) variant of IDUA (Alpha-L-iduronidase)
A8V (p.Ala8Val) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD rs1713779218
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available