Y102H (p.Tyr102His) variant of ADA (Adenosine deaminase)
Y102H (p.Tyr102His) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Y102H (p.Tyr102His) variant details
- p.Tyr102His
- TOPMed rs1359688726
- gnomAD rs1359688726
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.93
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available