P27L (p.Pro27Leu) variant of APOA1 (Apolipoprotein A-I)
P27L (p.Pro27Leu) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- 1000Genomes rs121912720
- ESP rs121912720
- ExAC rs121912720
- TOPMed rs121912720
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.36
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in dbSNP:rs121912720)
- UniProt: Pathogenic (in dbSNP:rs121912720)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available