L14F (p.Leu14Phe) variant of DOCK8 (Q8NF50)
L14F (p.Leu14Phe) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 3, autosomal recessive. 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.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs1273096402
- ClinGen CA372755763
- ClinVar RCV005416461
- TOPMed rs1273096402
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.23
- MetaLR 0.03
- MetaSVM -1.10
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available