P66L (p.Pro66Leu) variant of NPPA (Natriuretic peptides A)
P66L (p.Pro66Leu) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Atrial standstill 2; Atrial fibrillation, familial, 6; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- rs150794709
- ClinGen CA597063
- cosmic curated COSV56739
- ClinVar RCV000542702
- Conflicting interpretations
- Atrial standstill 2; Atrial fibrillation, familial, 6; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.10
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Atrial standstill 2; Atrial fibrillation, familial, 6; not speci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)