L4M (p.Leu4Met) variant of DOCK8 (Q8NF50)
L4M (p.Leu4Met) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD 9-214986-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.23
- MetaLR 0.06
- MetaSVM -1.06
- CADD 24.80
- PolyPhen-2 0.18
- SIFT 0.25
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available