N30Y (p.Asn30Tyr) variant of HTR2A (5-hydroxytryptamine receptor 2A)
N30Y (p.Asn30Tyr) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. 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.
N30Y (p.Asn30Tyr) variant details
- p.Asn30Tyr
- ExAC rs745909918
- TOPMed rs745909918
- gnomAD rs745909918
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -0.97
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available