P28S (p.Pro28Ser) variant of APOA1 (Apolipoprotein A-I)
P28S (p.Pro28Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs751415951
- ClinGen CA6289901
- ClinVar RCV003293729
- ExAC rs751415951
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.42
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in Munster-3B)
- UniProt: Uncertain significance (in Munster-3B)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available