L43S (p.Leu43Ser) variant of NPPA (Natriuretic peptides A)
L43S (p.Leu43Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
L43S (p.Leu43Ser) variant details
- p.Leu43Ser
- gnomAD rs1234604040
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.74
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)