V2A (p.Val2Ala) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V2A (p.Val2Ala) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- gnomAD X-114726941-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -0.99
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available