P60R (p.Pro60Arg) variant of NPPA (Natriuretic peptides A)
P60R (p.Pro60Arg) 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 0.15 / 1. The record also includes population frequency data and structural context.
P60R (p.Pro60Arg) variant details
- p.Pro60Arg
- rs779265393
- ClinGen CA597066
- ClinVar RCV003075815
- ExAC rs779265393
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.09
- CADD 12.40
- PolyPhen-2 0.24
- SIFT 0.09
- ClinVar: Uncertain significance (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