I65T (p.Ile65Thr) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I65T (p.Ile65Thr) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- gnomAD X-114731452-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.24
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available