L28V (p.Leu28Val) variant of ADA (Adenosine deaminase)
L28V (p.Leu28Val) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- 1000Genomes rs199886437
- ExAC rs199886437
- TOPMed rs199886437
- gnomAD rs199886437
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.48
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available