M28K (p.Met28Lys) variant of NPPA (Natriuretic peptides A)
M28K (p.Met28Lys) 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 0.20 / 1. The record also includes population frequency data.
M28K (p.Met28Lys) variant details
- p.Met28Lys
- 1000Genomes rs142116829
- ESP rs142116829
- ExAC rs142116829
- TOPMed rs142116829
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.12
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)