I25V (p.Ile25Val) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I25V (p.Ile25Val) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I25V (p.Ile25Val) variant details
- p.Ile25Val
- ESP rs137903956
- ExAC rs137903956
- gnomAD rs137903956
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.01
- CADD 12.50
- PolyPhen-2 0.04
- SIFT 0.41
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available