N193S (p.Asn193Ser) variant of LPA (Apolipoprotein(a))
N193S (p.Asn193Ser) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N193S (p.Asn193Ser) variant details
- p.Asn193Ser
- 1000Genomes rs541612332
- gnomAD rs541612332
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.34
- MetaLR 0.54
- MetaSVM -0.26
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:ASW population (allele frequency 0.025)
- Structural context available