Y19F (p.Tyr19Phe) variant of DOCK8 (Q8NF50)
Y19F (p.Tyr19Phe) in DOCK8 (Q8NF50) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y19F (p.Tyr19Phe) variant details
- p.Tyr19Phe
- TOPMed rs578093992
- gnomAD rs578093992
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.05
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.69
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available