A16V (p.Ala16Val) variant of NPPA (Natriuretic peptides A)
A16V (p.Ala16Val) 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.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs367817975
- ClinGen CA597127
- ClinVar RCV003866115
- ESP rs367817975
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0387
- REVEL 0.02
- CADD 0.62
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)