L38F (p.Leu38Phe) variant of ADA (Adenosine deaminase)
L38F (p.Leu38Phe) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- 1000Genomes rs199961890
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.80
- CADD 24.30
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available