I60V (p.Ile60Val) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I60V (p.Ile60Val) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HTR2C-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I60V (p.Ile60Val) variant details
- p.Ile60Val
- rs1173878618
- ClinGen CA414318091
- ClinVar RCV003904644
- TOPMed rs1173878618
- Uncertain significance
- HTR2C-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.19
- MetaLR 0.09
- MetaSVM -1.02
- CADD 22.60
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (HTR2C-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00067)
- Structural context available