T7P (p.Thr7Pro) variant of NPPA (Natriuretic peptides A)
T7P (p.Thr7Pro) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
T7P (p.Thr7Pro) variant details
- p.Thr7Pro
- ESP rs138651597
- ExAC rs138651597
- TOPMed rs138651597
- gnomAD rs138651597
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0546
- REVEL 0.04
- CADD 3.35
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)