R52G (p.Arg52Gly) variant of HTR2A (5-hydroxytryptamine receptor 2A)
R52G (p.Arg52Gly) in HTR2A (5-hydroxytryptamine receptor 2A) 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 0.20 / 1. The record also includes population frequency data and structural context.
R52G (p.Arg52Gly) variant details
- p.Arg52Gly
- rs1222375103
- NCI-TCGA Cosmic COSV6632
- gnomAD rs1222375103
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.03
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available