A70T (p.Ala70Thr) variant of NPPA (Natriuretic peptides A)
A70T (p.Ala70Thr) 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 0.19 / 1. The record also includes population frequency data and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- TOPMed rs1433555315
- gnomAD rs1433555315
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.10
- CADD 10.00
- PolyPhen-2 0.12
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available