N36K (p.Asn36Lys) variant of DNAJC6 (Auxilin)
N36K (p.Asn36Lys) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N36K (p.Asn36Lys) variant details
- p.Asn36Lys
- gnomAD 1-65309820-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.17
- MetaLR 0.41
- MetaSVM 0.01
- CADD 20.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available