G17V (p.Gly17Val) variant of HTR2C (5-hydroxytryptamine receptor 2C)
G17V (p.Gly17Val) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- cosmic curated COSV52226
- ExAC rs782253520
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.32
- MetaLR 0.26
- MetaSVM -0.56
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available