P59L (p.Pro59Leu) variant of NPPA (Natriuretic peptides A)
P59L (p.Pro59Leu) 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 not specified; Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs759999149
- ClinGen CA597069
- ClinVar RCV000646143
- ClinVar RCV006459736
- Uncertain significance
- not specified; Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.08
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available