L4L (p.Leu4Leu) variant of DOCK8 (Q8NF50)
L4L (p.Leu4Leu) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs753215803
- gnomAD 9-214988-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.505
- MetaLR 0.03
- MetaSVM -1.06
- CADD 21.80
- PolyPhen-2 0.38
- MutPred 0.16
- Population evidence available
- Structural context available
- Literature evidence available