S4I (p.Ser4Ile) variant of DNAJC6 (Auxilin)
S4I (p.Ser4Ile) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S4I (p.Ser4Ile) variant details
- p.Ser4Ile
- gnomAD 1-65309750-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.77
- CADD 28.70
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available