P81H (p.Pro81His) variant of APOH (Beta-2-glycoprotein 1)
P81H (p.Pro81His) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P81H (p.Pro81His) variant details
- p.Pro81His
- rs373786395
- ClinGen CA8720461
- ClinVar RCV004182443
- ESP rs373786395
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.64
- CADD 27.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available