P27R (p.Pro27Arg) variant of APOA1 (Apolipoprotein A-I)
P27R (p.Pro27Arg) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of APOLIPOPROTEIN A-I (MUNSTER3C). The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- rs121912720
- ClinGen CA127552
- ClinVar RCV000019503
- UniProt VAR 000606
- Pathogenic
- APOLIPOPROTEIN A-I (MUNSTER3C)
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.34
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (APOLIPOPROTEIN A-I (MUNSTER3C))
- EBI: Pathogenic (in dbSNP:rs121912720)
- UniProt: Pathogenic (in dbSNP:rs121912720)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of… (PMID 2512329)