E102K (p.Glu102Lys) variant of HTR2A (5-hydroxytryptamine receptor 2A)
E102K (p.Glu102Lys) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- cosmic curated COSV66326
- ExAC rs751219044
- gnomAD rs751219044
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.39
- MetaLR 0.19
- MetaSVM -0.65
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available