A70V (p.Ala70Val) variant of NPPA (Natriuretic peptides A)
A70V (p.Ala70Val) 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 0.13 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- rs13305987
- ClinGen CA597059
- cosmic curated COSV10735
- ClinVar RCV001909926
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.02
- CADD 5.98
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available