T62R (p.Thr62Arg) variant of NPPB (Natriuretic peptides B)
T62R (p.Thr62Arg) 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 0.04 / 1. The record also includes population frequency data and structural context.
T62R (p.Thr62Arg) variant details
- p.Thr62Arg
- ExAC rs780422182
- TOPMed rs780422182
- gnomAD rs780422182
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0407
- REVEL 0.03
- CADD 0.24
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available