I42V (p.Ile42Val) variant of DOCK8 (Q8NF50)
I42V (p.Ile42Val) in DOCK8 (Q8NF50) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- TOPMed rs1485703434
- gnomAD rs1485703434
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.04
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available