S40C (p.Ser40Cys) variant of HTR2A (5-hydroxytryptamine receptor 2A)
S40C (p.Ser40Cys) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S40C (p.Ser40Cys) variant details
- p.Ser40Cys
- ExAC rs768489549
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.29
- MetaLR 0.27
- MetaSVM -0.52
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available