L5F (p.Leu5Phe) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
L5F (p.Leu5Phe) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs201307997
- ClinGen CA8975050
- ClinVar RCV000861367
- ClinVar RCV004753056
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.03
- ESM-1b 0.02
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.07
- CADD 19.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.259