A11T (p.Ala11Thr) variant of COMT (Catechol O-methyltransferase)
A11T (p.Ala11Thr) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD rs1360629147
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.06
- CADD 8.75
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available