P22S (p.Pro22Ser) variant of LRP2 (P98164)
P22S (p.Pro22Ser) 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, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- rs759114383
- ClinGen CA10611327
- ClinVar RCV000309024
- ExAC rs759114383
- Uncertain significance
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.65
- ClinVar: Uncertain significance (Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)