S30G (p.Ser30Gly) variant of APOA1 (Apolipoprotein A-I)
S30G (p.Ser30Gly) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypoalphalipoproteinemia, primary, 2, intermediate; Hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S30G (p.Ser30Gly) variant details
- p.Ser30Gly
- rs147246779
- ClinGen CA229325329
- cosmic curated COSV99369
- ClinVar RCV004322730
- Uncertain significance
- Cardiovascular phenotype; Hypoalphalipoproteinemia, primary, 2, intermediate; Hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.19
- CADD 5.78
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypoalphalipoproteinemia, primary, 2,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available