A11V (p.Ala11Val) variant of COMT (Catechol O-methyltransferase)
A11V (p.Ala11Val) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- gnomAD 22-19962558-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.06
- MetaLR 0.16
- MetaSVM -1.03
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available