A30T (p.Ala30Thr) variant of DNAJC6 (Auxilin)
A30T (p.Ala30Thr) 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 and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD rs1348382365
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.17
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available