H49D (p.His49Asp) variant of NPPB (Natriuretic peptides B)
H49D (p.His49Asp) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H49D (p.His49Asp) variant details
- p.His49Asp
- gnomAD 1-11858457-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.07
- CADD 9.22
- PolyPhen-2 0.05
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available