S35C (p.Ser35Cys) variant of DNAJC6 (Auxilin)
S35C (p.Ser35Cys) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S35C (p.Ser35Cys) variant details
- p.Ser35Cys
- rs1190625878
- gnomAD 1-65309839-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available