A11A (p.Ala11Ala) variant of DOCK8 (Q8NF50)
A11A (p.Ala11Ala) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- gnomAD 9-215009-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.185
- MetaLR 0.02
- MetaSVM -1.02
- CADD 9.30
- PolyPhen-2 0.01
- MutPred 0.35
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available