F23L (p.Phe23Leu) variant of DNAJC6 (Auxilin)
F23L (p.Phe23Leu) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- rs1652994069
- gnomAD 1-65254577-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 14.80
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available