I59S (p.Ile59Ser) variant of COMT (Catechol O-methyltransferase)
I59S (p.Ile59Ser) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I59S (p.Ile59Ser) variant details
- p.Ile59Ser
- gnomAD 22-19962702-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.76
- MetaLR 0.47
- MetaSVM 0.03
- CADD 27.60
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available