L67F (p.Leu67Phe) variant of DOCK8 (Q8NF50)
L67F (p.Leu67Phe) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L67F (p.Leu67Phe) variant details
- p.Leu67Phe
- ExAC rs761529046
- TOPMed rs761529046
- gnomAD rs761529046
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.95
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available