S63F (p.Ser63Phe) variant of NPPB (Natriuretic peptides B)
S63F (p.Ser63Phe) 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 0.07 / 1. The record also includes population frequency data and structural context.
S63F (p.Ser63Phe) variant details
- p.Ser63Phe
- rs570474795
- ClinGen CA18018171
- ClinVar RCV004263373
- TOPMed rs570474795
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0684
- REVEL 0.04
- CADD 6.33
- PolyPhen-2 0.15
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available