P28R (p.Pro28Arg) variant of APOA1 (Apolipoprotein A-I)
P28R (p.Pro28Arg) 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 Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, inte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- rs121912721
- ClinGen CA127555
- ClinVar RCV000019504
- ClinVar RCV001851952
- Uncertain significance
- Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, inte
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.32
- CADD 18.30
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia,)
- EBI: Pathogenic (in Munster-3B)
- UniProt: Pathogenic (in Munster-3B)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of… (PMID 2512329)