L14P (p.Leu14Pro) variant of DOCK8 (Q8NF50)
L14P (p.Leu14Pro) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 9-215017-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- MetaLR 0.02
- MetaSVM -1.00
- CADD 28.40
- PolyPhen-2 0.96
- SIFT 0.17
- MutPred 0.27
- Population evidence available
- Structural context available
- Literature evidence available