P52S (p.Pro52Ser) variant of NPPA (Natriuretic peptides A)
P52S (p.Pro52Ser) 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; Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- rs1278041804
- ClinGen CA338451427
- ClinVar RCV001325742
- ClinVar RCV005682610
- Uncertain significance
- Inborn genetic diseases; Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)