L47F (p.Leu47Phe) variant of NPPA (Natriuretic peptides A)
L47F (p.Leu47Phe) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- gnomAD 1-11847422-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.15
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Literature evidence available