L12L (p.Leu12Leu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
L12L (p.Leu12Leu) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs1338166535
- gnomAD 18-58054874-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.092
- CADD 1.60
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.347
- Literature evidence available