Y44C (p.Tyr44Cys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
Y44C (p.Tyr44Cys) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y44C (p.Tyr44Cys) variant details
- p.Tyr44Cys
- gnomAD rs1412067241
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.77
- CADD 27.20
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.336