Y10C (p.Tyr10Cys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
Y10C (p.Tyr10Cys) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y10C (p.Tyr10Cys) variant details
- p.Tyr10Cys
- rs760237657
- ClinGen CA8975053
- cosmic curated COSV56852
- ClinVar RCV001235833
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.10
- MetaSVM -1.04
- CADD 25.10
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.623