P27H (p.Pro27His) variant of APOA1 (Apolipoprotein A-I)
P27H (p.Pro27His) 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 not specified; not provided; Cardiovascular phenotype. 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.
P27H (p.Pro27His) variant details
- p.Pro27His
- rs121912720
- ClinGen CA6289902
- ClinVar RCV001822795
- ClinVar RCV001869774
- Uncertain significance
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.37
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; Cardiovascular phenotype)
- EBI: Pathogenic (in Munster-3C)
- UniProt: Pathogenic (in Munster-3C)
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available