L20P (p.Leu20Pro) variant of NPPA (Natriuretic peptides A)
L20P (p.Leu20Pro) 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 0.17 / 1. The record also includes population frequency data.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs1645079089
- ClinGen CA338451940
- ClinVar RCV001338935
- Ensembl rs1645079089
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.04
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- 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 2.4e-05)