I46V (p.Ile46Val) variant of COMT (Catechol O-methyltransferase)
I46V (p.Ile46Val) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- gnomAD 22-19962662-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0751
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.08
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available