Y29H (p.Tyr29His) variant of NPPA (Natriuretic peptides A)
Y29H (p.Tyr29His) 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 0.44 / 1. The record also includes population frequency data.
Y29H (p.Tyr29His) variant details
- p.Tyr29His
- rs771777356
- ClinGen CA597114
- ClinVar RCV000704211
- ExAC rs771777356
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.40
- CADD 21.80
- PolyPhen-2 1.00
- SIFT 0.10
- 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 4.8e-05)