S35L (p.Ser35Leu) variant of DNAJC6 (Auxilin)
S35L (p.Ser35Leu) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S35L (p.Ser35Leu) variant details
- p.Ser35Leu
- rs1652994887
- gnomAD 1-65254629-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 14.90
- SIFT 0.22
- Most common in the Ashkenazi Jewish population (allele frequency 0.00014)
- Structural context available
- Literature evidence available