R10G (p.Arg10Gly) variant of DOCK8 (Q8NF50)
R10G (p.Arg10Gly) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- gnomAD 9-215004-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.93
- MetaLR 0.05
- MetaSVM -1.05
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available