R7S (p.Arg7Ser) variant of IDUA (Alpha-L-iduronidase)
R7S (p.Arg7Ser) in IDUA (Alpha-L-iduronidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- ExAC rs758122214
- gnomAD rs758122214
- Missense
- Variant Prioritization Score for Impact Estimate 0.0846
- CADD 4.38
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available