S49R (p.Ser49Arg) variant of DNAJC6 (Auxilin)
S49R (p.Ser49Arg) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- gnomAD 1-65309890-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 29.70
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available