S6N (p.Ser6Asn) variant of DOCK8 (Q8NF50)
S6N (p.Ser6Asn) 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 0.37 / 1. The record also includes population frequency data and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- ExAC rs756971694
- TOPMed rs756971694
- gnomAD rs756971694
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- MetaLR 0.02
- MetaSVM -0.99
- CADD 22.20
- PolyPhen-2 0.32
- SIFT 0.01
- MutPred 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available