T53P (p.Thr53Pro) variant of APOB (Apolipoprotein B-100)
T53P (p.Thr53Pro) 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 0.12 / 1. The record also includes population frequency data and structural context.
T53P (p.Thr53Pro) variant details
- p.Thr53Pro
- Ensembl rs1553301271
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.02
- CADD 10.10
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available