H14Y (p.His14Tyr) variant of HTR2C (5-hydroxytryptamine receptor 2C)
H14Y (p.His14Tyr) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H14Y (p.His14Tyr) variant details
- p.His14Tyr
- gnomAD X-114731298-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.66
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available