S4C (p.Ser4Cys) variant of DNAJC6 (Auxilin)
S4C (p.Ser4Cys) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- gnomAD 1-65309749-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.74
- CADD 29.00
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available