L12I (p.Leu12Ile) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L12I (p.Leu12Ile) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- cosmic curated COSV52226
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.02
- CADD 21.20
- PolyPhen-2 0.44
- SIFT 0.03
- Population evidence available
- Structural context available