P29Q (p.Pro29Gln) variant of HTR2C (5-hydroxytryptamine receptor 2C)
P29Q (p.Pro29Gln) in HTR2C (5-hydroxytryptamine receptor 2C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- gnomAD X-114731341-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available