N30I (p.Asn30Ile) variant of NPPA (Natriuretic peptides A)
N30I (p.Asn30Ile) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
N30I (p.Asn30Ile) variant details
- p.Asn30Ile
- ExAC rs747690078
- TOPMed rs747690078
- gnomAD rs747690078
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0836
- REVEL 0.02
- CADD 8.23
- PolyPhen-2 0.05
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)