V61I (p.Val61Ile) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V61I (p.Val61Ile) 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 0.22 / 1. The record also includes population frequency data and structural context.
V61I (p.Val61Ile) variant details
- p.Val61Ile
- rs371347099
- ClinGen CA10495407
- NCI-TCGA Cosmic COSV5221
- NCI-TCGA Cosmic COSV9934
- Uncertain significance
- HTR2C-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.03
- CADD 7.75
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (HTR2C-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00087)
- Structural context available