P4208H (p.Pro4208His) variant of LRP2 (P98164)
P4208H (p.Pro4208His) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
P4208H (p.Pro4208His) variant details
- p.Pro4208His
- rs2105348670
- ClinGen CA349130398
- NCI-TCGA Cosmic COSV9978
- ClinVar RCV001849820
- Likely pathogenic
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.71
- ClinVar: Likely pathogenic (Donnai-Barrow syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)