S49N (p.Ser49Asn) variant of DNAJC6 (Auxilin)
S49N (p.Ser49Asn) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- gnomAD 1-65309891-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.29
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.34
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available
- Literature evidence available