G31S (p.Gly31Ser) variant of LPA (Apolipoprotein(a))
G31S (p.Gly31Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
G31S (p.Gly31Ser) variant details
- p.Gly31Ser
- rs183171143
- ClinGen CA4087205
- ClinVar RCV004321563
- 1000Genomes rs183171143
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.86
- CADD 19.50
- PolyPhen-2 1.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available