Y139C (p.Tyr139Cys) variant of HTR2A (5-hydroxytryptamine receptor 2A)
Y139C (p.Tyr139Cys) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y139C (p.Tyr139Cys) variant details
- p.Tyr139Cys
- TOPMed rs1324037908
- gnomAD rs1324037908
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.51
- MetaLR 0.55
- MetaSVM 0.13
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available