K2E (p.Lys2Glu) variant of DNAJC6 (Auxilin)
K2E (p.Lys2Glu) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K2E (p.Lys2Glu) variant details
- p.Lys2Glu
- TOPMed rs1653265024
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 23.20
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available