K7M (p.Lys7Met) variant of DNAJC6 (Auxilin)
K7M (p.Lys7Met) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K7M (p.Lys7Met) variant details
- p.Lys7Met
- gnomAD 1-65309774-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.55
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available