E69K (p.Glu69Lys) variant of NPPB (Natriuretic peptides B)
E69K (p.Glu69Lys) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- gnomAD 1-11858397-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0939
- REVEL 0.01
- CADD 3.46
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available