S4F (p.Ser4Phe) variant of DNAJC6 (Auxilin)
S4F (p.Ser4Phe) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- gnomAD 1-65264921-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 28.80
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available