A24V (p.Ala24Val) variant of IDUA (Alpha-L-iduronidase)
A24V (p.Ala24Val) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- NCI-TCGA TCGA novel
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 9.05
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available