T40M (p.Thr40Met) variant of NPPB (Natriuretic peptides B)
T40M (p.Thr40Met) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T40M (p.Thr40Met) variant details
- p.Thr40Met
- gnomAD 1-11858715-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.081
- REVEL 0.05
- CADD 7.79
- PolyPhen-2 0.67
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available