T40N (p.Thr40Asn) variant of HTR2C (5-hydroxytryptamine receptor 2C)
T40N (p.Thr40Asn) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T40N (p.Thr40Asn) variant details
- p.Thr40Asn
- gnomAD X-114731377-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.04
- CADD 17.50
- PolyPhen-2 0.10
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available