M28T (p.Met28Thr) variant of NPPA (Natriuretic peptides A)
M28T (p.Met28Thr) 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 not specified; Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
M28T (p.Met28Thr) variant details
- p.Met28Thr
- rs142116829
- ClinGen CA597115
- ClinVar RCV000473745
- ClinVar RCV000780553
- Benign/Likely benign
- not specified; Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.10
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Benign/Likely benign (not specified; Atrial fibrillation, familial, 6)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)