H32R (p.His32Arg) variant of LRP2 (P98164)
H32R (p.His32Arg) 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 0.55 / 1. The record also includes population frequency data and structural context.
H32R (p.His32Arg) variant details
- p.His32Arg
- rs771153702
- NCI-TCGA Cosmic COSV5556
- cosmic curated COSV55565
- ExAC rs771153702
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available