A4S (p.Ala4Ser) variant of COMT (Catechol O-methyltransferase)
A4S (p.Ala4Ser) 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.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 22-19962536-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.04
- CADD 7.58
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available