T5A (p.Thr5Ala) variant of NPPB (Natriuretic peptides B)
T5A (p.Thr5Ala) 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 0.08 / 1. The record also includes population frequency data.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- ExAC rs779385648
- TOPMed rs779385648
- gnomAD rs779385648
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0807
- REVEL 0.02
- CADD 14.80
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)