T7A (p.Thr7Ala) variant of NPPA (Natriuretic peptides A)
T7A (p.Thr7Ala) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- rs138651597
- ClinGen CA597135
- ClinVar RCV001309476
- ESP rs138651597
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0365
- REVEL 0.02
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)