P28L (p.Pro28Leu) variant of NPPB (Natriuretic peptides B)
P28L (p.Pro28Leu) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- gnomAD 1-11858751-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.29
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available