A31V (p.Ala31Val) variant of HTR2C (5-hydroxytryptamine receptor 2C)
A31V (p.Ala31Val) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs201249233
- ClinGen CA10495394
- ClinVar RCV003412229
- ClinVar RCV004927909
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.07
- CADD 19.60
- PolyPhen-2 0.16
- SIFT 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available