P7T (p.Pro7Thr) variant of NPPB (Natriuretic peptides B)
P7T (p.Pro7Thr) in NPPB (Natriuretic peptides B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- TOPMed rs1054778790
- gnomAD rs1054778790
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.091
- REVEL 0.03
- CADD 5.28
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available