Q27K (p.Gln27Lys) variant of DOCK8 (Q8NF50)
Q27K (p.Gln27Lys) 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.
Q27K (p.Gln27Lys) variant details
- p.Gln27Lys
- ExAC rs748215543
- gnomAD rs748215543
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.18
- MetaLR 0.05
- MetaSVM -1.14
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available