S17S (p.Ser17Ser) variant of DNAJC6 (Auxilin)
S17S (p.Ser17Ser) in DNAJC6 (Auxilin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- rs990097806
- gnomAD 1-65254582-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.85
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Literature evidence available