V83I (p.Val83Ile) variant of HTR2A (5-hydroxytryptamine receptor 2A)
V83I (p.Val83Ile) 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 0.13 / 1. The record also includes population frequency data and structural context.
V83I (p.Val83Ile) variant details
- p.Val83Ile
- rs539430264
- NCI-TCGA Cosmic COSV6632
- cosmic curated COSV66327
- 1000Genomes rs539430264
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.98
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.55
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available