N40T (p.Asn40Thr) variant of DNAJC6 (Auxilin)
N40T (p.Asn40Thr) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N40T (p.Asn40Thr) variant details
- p.Asn40Thr
- rs1258883206
- gnomAD 1-65309868-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available