L14R (p.Leu14Arg) variant of NPPB (Natriuretic peptides B)
L14R (p.Leu14Arg) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD 1-11858793-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.31
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available