L54Q (p.Leu54Gln) variant of NPPB (Natriuretic peptides B)
L54Q (p.Leu54Gln) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L54Q (p.Leu54Gln) variant details
- p.Leu54Gln
- TOPMed rs1645134332
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.10
- CADD 19.80
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available