L50F (p.Leu50Phe) variant of NPPB (Natriuretic peptides B)
L50F (p.Leu50Phe) in NPPB (Natriuretic peptides B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- rs371722685
- ClinGen CA597244
- ClinVar RCV004491082
- ESP rs371722685
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.11
- CADD 14.80
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available