F28I (p.Phe28Ile) variant of DOCK8 (Q8NF50)
F28I (p.Phe28Ile) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
F28I (p.Phe28Ile) variant details
- p.Phe28Ile
- Ensembl rs1563857653
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.21
- MetaLR 0.02
- MetaSVM -1.01
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.60
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available