I42L (p.Ile42Leu) variant of DOCK8 (Q8NF50)
I42L (p.Ile42Leu) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I42L (p.Ile42Leu) variant details
- p.Ile42Leu
- rs1485703434
- ClinGen CA372752394
- ClinVar RCV005209405
- TOPMed rs1485703434
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.01
- CADD 3.22
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available