L67S (p.Leu67Ser) variant of NPPB (Natriuretic peptides B)
L67S (p.Leu67Ser) in NPPB (Natriuretic peptides B) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L67S (p.Leu67Ser) variant details
- p.Leu67Ser
- gnomAD 1-11858402-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.70
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available