D3Y (p.Asp3Tyr) variant of DNAJC6 (Auxilin)
D3Y (p.Asp3Tyr) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- cosmic curated COSV99675
- ESP rs369238276
- ExAC rs369238276
- TOPMed rs369238276
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 25.40
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available