M38I (p.Met38Ile) variant of NPPA (Natriuretic peptides A)
M38I (p.Met38Ile) 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 0.24 / 1. The record also includes population frequency data.
M38I (p.Met38Ile) variant details
- p.Met38Ile
- rs1370392073
- ClinGen CA338451706
- ClinVar RCV002716304
- TOPMed rs1370392073
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.08
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)