H9N (p.His9Asn) variant of HTR2C (5-hydroxytryptamine receptor 2C)
H9N (p.His9Asn) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H9N (p.His9Asn) variant details
- p.His9Asn
- gnomAD X-114726961-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.06
- CADD 21.30
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available