S12N (p.Ser12Asn) variant of HTR2A (5-hydroxytryptamine receptor 2A)
S12N (p.Ser12Asn) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- cosmic curated COSV10593
- 1000Genomes rs545813583
- ExAC rs545813583
- TOPMed rs545813583
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.03
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:PJL population (allele frequency 0.016)
- Structural context available