L4V (p.Leu4Val) variant of IDUA (Alpha-L-iduronidase)
L4V (p.Leu4Val) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- gnomAD 4-987094-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 5.42
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available