C34Y (p.Cys34Tyr) variant of COMT (Catechol O-methyltransferase)
C34Y (p.Cys34Tyr) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C34Y (p.Cys34Tyr) variant details
- p.Cys34Tyr
- gnomAD 22-19962627-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.95
- CADD 7.08
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available