P2S (p.Pro2Ser) variant of COMT (Catechol O-methyltransferase)
P2S (p.Pro2Ser) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- gnomAD 22-19962530-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.05
- MetaLR 0.12
- MetaSVM -1.03
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available