p.Thr8dup variant of NPPA (Natriuretic peptides A)
p.Thr8dup in NPPA (Natriuretic peptides A) 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 and published literature.
p.Thr8dup variant details
- rs760300711
- gnomAD 1-11847660-C-CGGT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.0811
- CADD 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available