R34H (p.Arg34His) variant of LRP2 (P98164)
R34H (p.Arg34His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs186568676
- ClinGen CA1955989
- cosmic curated COSV55541
- NCI-TCGA Cosmic COSV9978
- Uncertain significance
- Donnai-Barrow syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 23.30
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (Donnai-Barrow syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)