A22A (p.Ala22Ala) variant of DOCK8 (Q8NF50)
A22A (p.Ala22Ala) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs561397821
- gnomAD 9-271639-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 7.82
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Literature evidence available