P43L (p.Pro43Leu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
P43L (p.Pro43Leu) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs1168022706
- ClinGen CA402715573
- ClinVar RCV003852370
- gnomAD rs1168022706
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.81
- CADD 26.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.192