T3S (p.Thr3Ser) variant of DOCK8 (Q8NF50)
T3S (p.Thr3Ser) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Combined immunodeficiency due to DOCK8 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T3S (p.Thr3Ser) variant details
- p.Thr3Ser
- rs199739266
- ClinGen CA4956902
- ClinVar RCV006610061
- 1000Genomes rs199739266
- Benign
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- MetaLR 0.02
- MetaSVM -1.01
- CADD 21.00
- PolyPhen-2 0.40
- SIFT 0.58
- ClinVar: Benign (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0077)
- Structural context available