R51W (p.Arg51Trp) variant of DNAJC6 (Auxilin)
R51W (p.Arg51Trp) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- rs12753869
- gnomAD 1-65309887-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 6.3e-05)
- Structural context available
- Literature evidence available