R34L (p.Arg34Leu) variant of LRP2 (P98164)
R34L (p.Arg34Leu) 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 0.70 / 1. The record also includes population frequency data and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- NCI-TCGA Cosmic COSV9978
- cosmic curated COSV99787
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 17.20
- PolyPhen-2 0.06
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available