L14I (p.Leu14Ile) variant of DOCK8 (Q8NF50)
L14I (p.Leu14Ile) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- gnomAD 9-215016-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- MetaLR 0.02
- MetaSVM -1.03
- CADD 25.10
- PolyPhen-2 0.88
- SIFT 0.33
- MutPred 0.18
- Population evidence available
- Structural context available
- Literature evidence available