P31S (p.Pro31Ser) variant of APOA1 (Apolipoprotein A-I)
P31S (p.Pro31Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs764283540
- ClinGen CA382721059
- ClinVar RCV003849684
- ExAC rs764283540
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0467
- REVEL 0.03
- CADD 0.59
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available