E58K (p.Glu58Lys) variant of HTR2A (5-hydroxytryptamine receptor 2A)
E58K (p.Glu58Lys) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- TOPMed rs1056712633
- gnomAD rs1056712633
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -1.10
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available