I36L (p.Ile36Leu) variant of ADA (Adenosine deaminase)
I36L (p.Ile36Leu) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I36L (p.Ile36Leu) variant details
- p.Ile36Leu
- gnomAD rs1431003280
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.41
- CADD 9.64
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available