R47S (p.Arg47Ser) variant of NPPB (Natriuretic peptides B)
R47S (p.Arg47Ser) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R47S (p.Arg47Ser) variant details
- p.Arg47Ser
- gnomAD 1-11858463-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.02
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available