N48K (p.Asn48Lys) variant of NPPB (Natriuretic peptides B)
N48K (p.Asn48Lys) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
N48K (p.Asn48Lys) variant details
- p.Asn48Lys
- TOPMed rs935981602
- gnomAD rs935981602
- Missense
- Variant Prioritization Score for Impact Estimate 0.039
- REVEL 0.01
- CADD 3.39
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available