E6G (p.Glu6Gly) variant of HTR2A (5-hydroxytryptamine receptor 2A)
E6G (p.Glu6Gly) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- gnomAD rs1418879482
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -0.88
- CADD 24.80
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available