E6K (p.Glu6Lys) variant of HTR2A (5-hydroxytryptamine receptor 2A)
E6K (p.Glu6Lys) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- cosmic curated COSV66328
- Ensembl rs748483027
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -0.89
- CADD 23.30
- PolyPhen-2 0.08
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available