F64L (p.Phe64Leu) variant of DOCK8 (Q8NF50)
F64L (p.Phe64Leu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
F64L (p.Phe64Leu) variant details
- p.Phe64Leu
- Ensembl rs2048828894
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.74
- MetaLR 0.02
- MetaSVM -1.03
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available