T8I (p.Thr8Ile) variant of NPPA (Natriuretic peptides A)
T8I (p.Thr8Ile) 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 0.13 / 1. The record also includes population frequency data and published literature.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- rs142653342
- ClinGen CA597134
- ClinVar RCV000646142
- ClinVar RCV004639304
- Uncertain significance
- Inborn genetic diseases; Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.05
- CADD 1.03
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)