L37P (p.Leu37Pro) variant of NPPA (Natriuretic peptides A)
L37P (p.Leu37Pro) 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 0.61 / 1. The record also includes population frequency data.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- rs757501347
- ClinGen CA597105
- ClinVar RCV003631576
- ExAC rs757501347
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.59
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)