L4P (p.Leu4Pro) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L4P (p.Leu4Pro) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD X-114726947-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.26
- MetaLR 0.21
- MetaSVM -0.68
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available