M38R (p.Met38Arg) variant of NPPA (Natriuretic peptides A)
M38R (p.Met38Arg) 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 0.21 / 1. The record also includes population frequency data.
M38R (p.Met38Arg) variant details
- p.Met38Arg
- rs763172985
- ClinGen CA597102
- ClinVar RCV001917910
- ExAC rs763172985
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.18
- SIFT 0.29
- 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 0.00031)