V52L (p.Val52Leu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V52L (p.Val52Leu) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- ExAC rs74465306
- TOPMed rs74465306
- gnomAD rs74465306
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 6.6e-05)
- Structural context available