P29R (p.Pro29Arg) variant of HTR2C (5-hydroxytryptamine receptor 2C)
P29R (p.Pro29Arg) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- gnomAD rs1556423251
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.24
- MetaLR 0.16
- MetaSVM -0.91
- CADD 20.10
- PolyPhen-2 1.00
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available