S74N (p.Ser74Asn) variant of DOCK8 (Q8NF50)
S74N (p.Ser74Asn) in DOCK8 (Q8NF50) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
S74N (p.Ser74Asn) variant details
- p.Ser74Asn
- 1000Genomes rs563918671
- ExAC rs563918671
- TOPMed rs563918671
- gnomAD rs563918671
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.06
- CADD 12.00
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available