A11V (p.Ala11Val) variant of DOCK8 (Q8NF50)
A11V (p.Ala11Val) 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.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- gnomAD 9-215008-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.89
- MetaLR 0.07
- MetaSVM -1.01
- CADD 25.80
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available