S4N (p.Ser4Asn) variant of DNAJC6 (Auxilin)
S4N (p.Ser4Asn) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- gnomAD 1-65309762-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available