A4V (p.Ala4Val) variant of COMT (Catechol O-methyltransferase)
A4V (p.Ala4Val) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 22-19962537-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0974
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.05
- CADD 6.45
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available