E69D (p.Glu69Asp) variant of NPPB (Natriuretic peptides B)
E69D (p.Glu69Asp) in NPPB (Natriuretic peptides B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
E69D (p.Glu69Asp) variant details
- p.Glu69Asp
- 1000Genomes rs74613227
- ESP rs74613227
- ExAC rs74613227
- TOPMed rs74613227
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.075
- REVEL 0.02
- CADD 8.64
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available