D48N (p.Asp48Asn) variant of HTR2A (5-hydroxytryptamine receptor 2A)
D48N (p.Asp48Asn) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- ExAC rs755654778
- TOPMed rs755654778
- gnomAD rs755654778
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.02
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available