S64R (p.Ser64Arg) variant of NPPA (Natriuretic peptides A)
S64R (p.Ser64Arg) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Atrial fibrillation, familial, 6; Atrial standstill 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S64R (p.Ser64Arg) variant details
- p.Ser64Arg
- rs61757261
- ClinGen CA151258
- ClinVar RCV000114741
- ClinVar RCV000780554
- Benign/Likely benign
- Atrial fibrillation, familial, 6; Atrial standstill 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.19
- CADD 8.75
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Benign/Likely benign (Atrial fibrillation, familial, 6; Atrial standstill 2; not speci)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. (PMID 19646991)