R34C (p.Arg34Cys) variant of LRP2 (P98164)
R34C (p.Arg34Cys) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs747942310
- ClinGen CA1955990
- NCI-TCGA Cosmic COSV5553
- cosmic curated COSV55539
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 26.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available