I42V (p.Ile42Val) variant of COMT (Catechol O-methyltransferase)
I42V (p.Ile42Val) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- Ensembl rs2146165010
- Missense
- Variant Prioritization Score for Impact Estimate 0.045
- REVEL 0.03
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available