T40A (p.Thr40Ala) variant of HTR2C (5-hydroxytryptamine receptor 2C)
T40A (p.Thr40Ala) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HTR2C-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- cosmic curated COSV52222
- gnomAD rs2069535158
- Uncertain significance
- HTR2C-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.01
- CADD 7.21
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (HTR2C-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available