V30A (p.Val30Ala) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V30A (p.Val30Ala) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- ESP rs369056461
- ExAC rs369056461
- TOPMed rs369056461
- gnomAD rs369056461
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.98
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.89
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available