P6T (p.Pro6Thr) variant of COMT (Catechol O-methyltransferase)
P6T (p.Pro6Thr) 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.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 22-19962542-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0958
- REVEL 0.03
- MetaLR 0.14
- MetaSVM -0.99
- CADD 8.01
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available