N193I (p.Asn193Ile) variant of LPA (Apolipoprotein(a))
N193I (p.Asn193Ile) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N193I (p.Asn193Ile) variant details
- p.Asn193Ile
- 1000Genomes rs541612332
- gnomAD rs541612332
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.39
- MetaLR 0.66
- MetaSVM -0.21
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.1e-06)
- Structural context available