S17F (p.Ser17Phe) variant of DNAJC6 (Auxilin)
S17F (p.Ser17Phe) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- rs1450797012
- gnomAD 1-65254581-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 13.30
- SIFT 0.02
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available
- Literature evidence available