L30L (p.Leu30Leu) variant of DOCK8 (Q8NF50)
L30L (p.Leu30Leu) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs1291085702
- gnomAD 9-271663-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 4.08
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available