N61S (p.Asn61Ser) variant of LPA (Apolipoprotein(a))
N61S (p.Asn61Ser) in LPA (Apolipoprotein(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 and structural context.
N61S (p.Asn61Ser) variant details
- p.Asn61Ser
- rs191762721
- ClinGen CA4087181
- ClinVar RCV004229373
- 1000Genomes rs191762721
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0755
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.01
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available