V110L (p.Val110Leu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
V110L (p.Val110Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
V110L (p.Val110Leu) variant details
- p.Val110Leu
- rs777311647
- ClinGen CA8975308
- ClinVar RCV001214973
- ExAC rs777311647
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.19
- MetaSVM -0.88
- CADD 21.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available