I65V (p.Ile65Val) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I65V (p.Ile65Val) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- gnomAD X-114731451-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.06
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available