S29T (p.Ser29Thr) variant of HTR2A (5-hydroxytryptamine receptor 2A)
S29T (p.Ser29Thr) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S29T (p.Ser29Thr) variant details
- p.Ser29Thr
- rs1332655388
- ClinGen CA388154889
- ClinVar RCV004404852
- TOPMed rs1332655388
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0804
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.01
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available