V9M (p.Val9Met) variant of NPPA (Natriuretic peptides A)
V9M (p.Val9Met) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Atrial standstill 2; Atrial fibrillation, familial, 6; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
V9M (p.Val9Met) variant details
- p.Val9Met
- rs143419574
- ClinGen CA597129
- cosmic curated COSV56740
- ClinVar RCV001214510
- Conflicting interpretations
- Atrial standstill 2; Atrial fibrillation, familial, 6; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0402
- REVEL 0.03
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (Atrial standstill 2; Atrial fibrillation, familial, 6; not speci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)