Y29C (p.Tyr29Cys) variant of ADA (Adenosine deaminase)
Y29C (p.Tyr29Cys) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Y29C (p.Tyr29Cys) variant details
- p.Tyr29Cys
- ExAC rs746622099
- gnomAD rs746622099
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.68
- CADD 25.10
- PolyPhen-2 0.74
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available