P27S (p.Pro27Ser) variant of APOA1 (Apolipoprotein A-I)
P27S (p.Pro27Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- rs200213347
- ClinGen CA6289903
- ClinVar RCV004417720
- ClinVar RCV005104554
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs121912720)
- UniProt: Uncertain significance (in dbSNP:rs121912720)
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available