M38V (p.Met38Val) variant of NPPA (Natriuretic peptides A)
M38V (p.Met38Val) 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 Inborn genetic diseases; Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and published literature.
M38V (p.Met38Val) variant details
- p.Met38Val
- rs764360980
- ClinGen CA597103
- ClinVar RCV000798450
- ClinVar RCV006367340
- Uncertain significance
- Inborn genetic diseases; Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.03
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (Inborn genetic diseases; Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)