R25C (p.Arg25Cys) variant of NPPB (Natriuretic peptides B)
R25C (p.Arg25Cys) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- gnomAD 1-11858761-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available