N17S (p.Asn17Ser) variant of DOCK8 (Q8NF50)
N17S (p.Asn17Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- rs1291124124
- ClinGen CA372755839
- ClinVar RCV006559576
- gnomAD rs1291124124
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.08
- CADD 28.50
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available