C57F (p.Cys57Phe) variant of HTR2A (5-hydroxytryptamine receptor 2A)
C57F (p.Cys57Phe) in HTR2A (5-hydroxytryptamine receptor 2A) 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 and structural context.
C57F (p.Cys57Phe) variant details
- p.Cys57Phe
- TOPMed rs896284675
- gnomAD rs896284675
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.22
- MetaLR 0.06
- MetaSVM -1.12
- CADD 22.40
- PolyPhen-2 0.45
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available