I16M (p.Ile16Met) variant of DOCK8 (Q8NF50)
I16M (p.Ile16Met) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I16M (p.Ile16Met) variant details
- p.Ile16Met
- TOPMed rs1316350320
- gnomAD rs1316350320
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- MetaLR 0.02
- MetaSVM -1.03
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.23
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available