T4K (p.Thr4Lys) variant of ADA (Adenosine deaminase)
T4K (p.Thr4Lys) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T4K (p.Thr4Lys) variant details
- p.Thr4Lys
- gnomAD rs2065647035
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.26
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available