Y19C (p.Tyr19Cys) variant of DOCK8 (Q8NF50)
Y19C (p.Tyr19Cys) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to DOCK8 deficiency; not specified. 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.
Y19C (p.Tyr19Cys) variant details
- p.Tyr19Cys
- rs578093992
- ClinGen CA372752176
- ClinVar RCV005238164
- ClinVar RCV006468862
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -1.10
- CADD 20.80
- PolyPhen-2 0.67
- SIFT 0.18
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available