R52* (p.Arg52Ter) variant of HTR2A (5-hydroxytryptamine receptor 2A)
R52* (p.Arg52Ter) in HTR2A (5-hydroxytryptamine receptor 2A) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R52* (p.Arg52Ter) variant details
- p.Arg52Ter
- NCI-TCGA Cosmic COSV6632
- cosmic curated COSV66326
- gnomAD rs1222375103
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available