V58M (p.Val58Met) variant of NPPA (Natriuretic peptides A)
V58M (p.Val58Met) 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 and structural context.
V58M (p.Val58Met) variant details
- p.Val58Met
- rs768114654
- ClinGen CA597072
- NCI-TCGA Cosmic COSV5674
- cosmic curated COSV56740
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0388
- REVEL 0.02
- CADD 0.98
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available