A35T (p.Ala35Thr) variant of NPPA (Natriuretic peptides A)
A35T (p.Ala35Thr) 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 NPPA-related disorder; Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs202145205
- ClinGen CA597107
- NCI-TCGA Cosmic COSV5674
- cosmic curated COSV56740
- Uncertain significance
- NPPA-related disorder; Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.089
- REVEL 0.03
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (NPPA-related disorder; Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)