P22L (p.Pro22Leu) variant of LRP2 (P98164)
P22L (p.Pro22Leu) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- gnomAD rs867254167
- Uncertain significance
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available