S5C (p.Ser5Cys) variant of TBK1 (Q9UHD2)
S5C (p.Ser5Cys) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- ExAC rs764400429
- gnomAD rs764400429
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.44
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available