P29L (p.Pro29Leu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
P29L (p.Pro29Leu) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- gnomAD X-114731344-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.19
- MetaLR 0.11
- MetaSVM -0.95
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.41
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available