L14L (p.Leu14Leu) variant of DOCK8 (Q8NF50)
L14L (p.Leu14Leu) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 9-215018-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available