R69Q (p.Arg69Gln) variant of HMGCR (P04035)
R69Q (p.Arg69Gln) in HMGCR (P04035) 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 0.81 / 1. The record also includes population frequency data and structural context.
R69Q (p.Arg69Gln) variant details
- p.Arg69Gln
- rs1430662318
- NCI-TCGA Cosmic COSV5531
- cosmic curated COSV55316
- TOPMed rs1430662318
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available