S6T (p.Ser6Thr) variant of DOCK8 (Q8NF50)
S6T (p.Ser6Thr) 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 0.38 / 1. The record also includes population frequency data and structural context.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- ExAC rs756971694
- TOPMed rs756971694
- gnomAD rs756971694
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- MetaLR 0.02
- MetaSVM -0.97
- CADD 22.00
- PolyPhen-2 0.38
- SIFT 0.21
- MutPred 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available