P28L (p.Pro28Leu) variant of APOA1 (Apolipoprotein A-I)
P28L (p.Pro28Leu) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Munster-3B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- ESP rs121912721
- ExAC rs121912721
- TOPMed rs121912721
- gnomAD rs121912721
- Pathogenic
- in Munster-3B
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.36
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic (in Munster-3B)
- UniProt: Pathogenic (in Munster-3B)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available