D53N (p.Asp53Asn) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
D53N (p.Asp53Asn) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- rs1053560286
- ClinGen CA301417768
- ClinVar RCV003709891
- Ensembl rs1053560286
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.20
- MetaSVM -0.78
- CADD 23.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available