G49E (p.Gly49Glu) variant of LRP2 (P98164)
G49E (p.Gly49Glu) in LRP2 (P98164) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- rs778689139
- NCI-TCGA Cosmic COSV5555
- cosmic curated COSV55551
- Ensembl rs778689139
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 23.20
- PolyPhen-2 0.92
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available