R51P (p.Arg51Pro) variant of DNAJC6 (Auxilin)
R51P (p.Arg51Pro) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R51P (p.Arg51Pro) variant details
- p.Arg51Pro
- rs911273317
- gnomAD 1-65309888-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Literature evidence available