A2T (p.Ala2Thr) variant of DOCK8 (Q8NF50)
A2T (p.Ala2Thr) 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 0.54 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs995474571
- ClinGen CA187758527
- ClinVar RCV001341909
- TOPMed rs995474571
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.79
- MetaLR 0.03
- MetaSVM -1.10
- CADD 24.10
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available