P27T (p.Pro27Thr) variant of APOA1 (Apolipoprotein A-I)
P27T (p.Pro27Thr) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- 1000Genomes rs200213347
- ExAC rs200213347
- TOPMed rs200213347
- gnomAD rs200213347
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.26
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in dbSNP:rs121912720)
- UniProt: Uncertain significance (in dbSNP:rs121912720)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available