P6T (p.Pro6Thr) variant of IDUA (Alpha-L-iduronidase)
P6T (p.Pro6Thr) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- Ensembl rs1713777803
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 8.92
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available