A11G (p.Ala11Gly) variant of DOCK8 (Q8NF50)
A11G (p.Ala11Gly) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- gnomAD 9-215008-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.59
- MetaLR 0.06
- MetaSVM -1.03
- CADD 25.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available