N40K (p.Asn40Lys) variant of DNAJC6 (Auxilin)
N40K (p.Asn40Lys) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N40K (p.Asn40Lys) variant details
- p.Asn40Lys
- rs1645080945
- gnomAD 1-65309871-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.16
- CADD 2.56
- PolyPhen-2 0.00
- SIFT 0.96
- Population evidence available
- Structural context available
- Literature evidence available