A11T (p.Ala11Thr) variant of DOCK8 (Q8NF50)
A11T (p.Ala11Thr) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD 9-215007-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.86
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available