F12L (p.Phe12Leu) variant of DOCK8 (Q8NF50)
F12L (p.Phe12Leu) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- rs566738926
- ClinGen CA4956910
- ClinVar RCV000332616
- 1000Genomes rs566738926
- Conflicting interpretations
- Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 43.00
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Combined immunodeficiency due to DOCK8 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available