M1C (p.Met1Cys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
M1C (p.Met1Cys) 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 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M1C (p.Met1Cys) variant details
- p.Met1Cys
- gnomAD 18-58054853-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 1.42
- Population evidence available
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.095
- Literature evidence available