P8T (p.Pro8Thr) variant of LRP5 (O75197)
P8T (p.Pro8Thr) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- rs895427090
- ClinGen CA224251918
- ClinVar RCV003456780
- TOPMed rs895427090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.24
- CADD 8.72
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available