I42R (p.Ile42Arg) variant of DOCK8 (Q8NF50)
I42R (p.Ile42Arg) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I42R (p.Ile42Arg) variant details
- p.Ile42Arg
- gnomAD rs1185078111
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.13
- MetaLR 0.03
- MetaSVM -1.05
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available