S55L (p.Ser55Leu) variant of NPPB (Natriuretic peptides B)
S55L (p.Ser55Leu) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S55L (p.Ser55Leu) variant details
- p.Ser55Leu
- gnomAD 1-11858438-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0596
- REVEL 0.04
- CADD 2.50
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available