L30I (p.Leu30Ile) variant of DOCK8 (Q8NF50)
L30I (p.Leu30Ile) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- gnomAD 9-271661-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.06
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.48
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available