N73K (p.Asn73Lys) variant of DOCK8 (Q8NF50)
N73K (p.Asn73Lys) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N73K (p.Asn73Lys) variant details
- p.Asn73Lys
- TOPMed rs1280004562
- gnomAD rs1280004562
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- AlphaMissense 0.16
- MetaLR 0.10
- MetaSVM -1.03
- CADD 7.63
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available