D31Y (p.Asp31Tyr) variant of HTR2A (5-hydroxytryptamine receptor 2A)
D31Y (p.Asp31Tyr) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
D31Y (p.Asp31Tyr) variant details
- p.Asp31Tyr
- ExAC rs777023991
- TOPMed rs777023991
- gnomAD rs777023991
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -0.99
- CADD 20.10
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available