N6I (p.Asn6Ile) variant of DNAJC6 (Auxilin)
N6I (p.Asn6Ile) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N6I (p.Asn6Ile) variant details
- p.Asn6Ile
- gnomAD 1-65309783-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.22
- MetaLR 0.04
- MetaSVM -0.93
- CADD 23.20
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available