S6I (p.Ser6Ile) variant of DOCK8 (Q8NF50)
S6I (p.Ser6Ile) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- rs756971694
- ClinGen CA372755560
- ClinVar RCV006466540
- ExAC rs756971694
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- MetaLR 0.02
- MetaSVM -0.98
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to DOCK8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available