L22P (p.Leu22Pro) variant of LRP5 (O75197)
L22P (p.Leu22Pro) 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 0.42 / 1. The record also includes population frequency data and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- rs2496192099
- ClinGen CA381607514
- ClinVar RCV003016961
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.42
- CADD 21.70
- PolyPhen-2 0.77
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00015)
- Structural context available