K26R (p.Lys26Arg) variant of DOCK8 (Q8NF50)
K26R (p.Lys26Arg) 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, published literature, and structural context.
K26R (p.Lys26Arg) variant details
- p.Lys26Arg
- gnomAD 9-271650-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.96
- CADD 21.00
- PolyPhen-2 0.48
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available