R3192Q (p.Arg3192Gln) variant of LRP2 (P98164)
R3192Q (p.Arg3192Gln) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R3192Q (p.Arg3192Gln) variant details
- p.Arg3192Gln
- rs753667280
- ClinGen CA1953548
- NCI-TCGA Cosmic COSV5553
- NCI-TCGA Cosmic COSV5554
- Likely pathogenic
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Likely pathogenic (Donnai-Barrow syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)