P65H (p.Pro65His) variant of APOB (Apolipoprotein B-100)
P65H (p.Pro65His) 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 0.24 / 1. The record also includes population frequency data and structural context.
P65H (p.Pro65His) variant details
- p.Pro65His
- gnomAD rs1224871215
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.96
- CADD 22.90
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available