T53A (p.Thr53Ala) variant of APOB (Apolipoprotein B-100)
T53A (p.Thr53Ala) in APOB (Apolipoprotein B-100) 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 0.08 / 1. The record also includes population frequency data and structural context.
T53A (p.Thr53Ala) variant details
- p.Thr53Ala
- Ensembl rs1553301271
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0845
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.05
- CADD 8.47
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available