I59V (p.Ile59Val) variant of COMT (Catechol O-methyltransferase)
I59V (p.Ile59Val) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I59V (p.Ile59Val) variant details
- p.Ile59Val
- ExAC rs752620960
- gnomAD rs752620960
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.28
- CADD 21.60
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available