F12V (p.Phe12Val) variant of DOCK8 (Q8NF50)
F12V (p.Phe12Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
F12V (p.Phe12Val) variant details
- p.Phe12Val
- rs886063779
- ClinGen CA10633224
- ClinVar RCV000296274
- TOPMed rs886063779
- Uncertain significance
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- MetaLR 0.03
- MetaSVM -1.09
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.22
- ClinVar: Uncertain significance (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available