L63I (p.Leu63Ile) variant of NPPA (Natriuretic peptides A)
L63I (p.Leu63Ile) 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 0.36 / 1. The record also includes population frequency data and structural context.
L63I (p.Leu63Ile) variant details
- p.Leu63Ile
- rs951621848
- ClinGen CA18010796
- ClinVar RCV001997806
- TOPMed rs951621848
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.14
- CADD 8.84
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available